Chromosome 1
Chromosome X << >> Chromosome 2Back
---------------------------------------------------------------------------------------------------------------- Summary of data - 'Chromosome 1a rs4477212 - rs696702' No data = 0 Rare SNPs = 175 Minor Allele Frequency >0 and <0.01 = 691 Minor Allele Frequency >=0.01 and <0.02 = 597 Minor Allele Frequency >=0.02 and <0.03 = 631 Minor Allele Frequency >=0.03 and <0.05 = 1155 Minor Allele Frequency >=0.05 and <0.5 = 21735 Total of SNPs = 24984 There are also 222 i-SNPs for which there is no data ---------------------------------------------------------------------------------------------------------------- Summary of data - 'Chromosome '1b rs699850 - rs10913157' No data = 0 Rare SNPs = 257 Minor Allele Frequency >0 and <0.01 = 1062 Minor Allele Frequency >=0.01 and <0.02 = 693 Minor Allele Frequency >=0.02 and <0.03 = 757 Minor Allele Frequency >=0.03 and <0.05 = 1237 Minor Allele Frequency >=0.05 and <0.5 = 20955 Total of SNPs = 24961 There are also 302 i-SNPs for which there is no data ---------------------------------------------------------------------------------------------------------------- Summary of data - 'Chromosome '1c rs12142594 - rs12746903' No data = 0 Rare SNPs = 67 Minor Allele Frequency >0 and <0.01 = 353 Minor Allele Frequency >=0.01 and <0.02 = 510 Minor Allele Frequency >=0.02 and <0.03 = 590 Minor Allele Frequency >=0.03 and <0.05 = 1247 Minor Allele Frequency >=0.05 and <0.5 = 23418 Total of SNPs = 26185 There are also 190 i-SNPs for which there is no data ----------------------------------------------------------------------------------------------------------------
Example Reports:
---------------------------------------------------------------------------------------------------------------- ---------------------------------------------------------------------------------------------------------------- Person:- 'b' (email withheld) <0.01: rs33981382 at Chr1:17541475 gave 'AG' The minor allele is 'G' with a MAF = 0.00639 rs1181088 at Chr1:54335627 gave 'AG' The minor allele is 'G' with a MAF = 0.00959 rs41285370 at Chr1:63560679 gave 'GT' The minor allele is 'T' with a MAF = 0.00999 rs11578472 at Chr1:161318875 gave 'GT' The minor allele is 'T' with a MAF = 0.00868 rs17277288 at Chr1:177344236 gave 'CT' The minor allele is 'C' with a MAF = 0.00776 ---------------------------------------------------------------------------------------------------------------- Person:- 'i' (email withheld) <0.01: rs5745459 at Chr1:76118411 gave 'AG' The minor allele is 'G' with a MAF = 0.00411 rs1627675 at Chr1:143745341 gave 'AG' The minor allele is 'A' with a MAF = 0.00000. rs1539656 at Chr1:143752608 gave 'CT' The minor allele is 'T' with a MAF = 0.00000. rs7549007 at Chr1:150322992 gave 'CT' The minor allele is 'C' with a MAF = 0.00914 rs11579653 at Chr1:163438585 gave 'AG' The minor allele is 'A' with a MAF = 0.00639 rs35730265 at Chr1:214563555 gave 'CG' The minor allele is 'G' with a MAF = 0.00800 ---------------------------------------------------------------------------------------------------------------- Person:- 'k' (email withheld) <0.01: rs28924117 at Chr1:11656671 gave 'AG' The minor allele is 'A' with a MAF = 0.00182. rs56367069 at Chr1:17199354 gave 'CT' The minor allele is 'T' with a MAF = 0.00776. rs67376798 at Chr1:97320535 gave 'AT' The minor allele is 'A' with a MAF = 0.00319 rs11465205 at Chr1:153427565 gave 'CT' The minor allele is 'T' with a MAF = 0.00639. rs3737523 at Chr1:157288351 gave 'CT' The minor allele is 'T' with a MAF = 0.00502 rs28384848 at Chr1:169491436 gave 'CT' The minor allele is 'C' with a MAF = 0.00502 rs28370127 at Chr1:222015937 gave 'CG' The minor allele is 'C' with a MAF = 0.00411 rs822734 at Chr1:226335712 gave 'GT' The minor allele is 'T' with a MAF = 0.00400. ---------------------------------------------------------------------------------------------------------------- ----------------------------------------------------------------------------------------------------------------Submitted RS details for the <0.01 results:
rs number gene details type ---------------------------------------------------------------------------------------------------------------- ---------------------------------------------------------------------------------------------------------------- rs1115 TNFAIP8L2-SCNM1 TNFAIP8L2-SCNM1 readthrough - missense E136K ('jl') 'AG' MAF = 0.00182. Appears 1-2% worldwide. The change E<>K is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs4059 TMEM51 transmembrane protein 51 - UTR-3 ('pa') 'AG' MAF = 0.00502. Maybe 5% in Europe and less elsewhere. ('ds') 'AA' ---------------------------------------------------------------------------------------------------------------- rs5229 NPPB natriuretic peptide B - missense R47H ('af') 'CT' MAF = 0.00137. Possibly 3% in Europe, 2% in Asia and absent from Africa. The change R<>H is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs5273 PTGS2 prostaglandin-endoperoxide synthase 2 - missense V511A (2) ('m3') 'AG' MAF = 0.00776. Appears 8% in Africa and absent elsewhere. The change V<>A is common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs5901 F3 coagulation factor III (thromboplastin, tissue factor) - missense R163W ('jd') 'AG' MAF = 0.00228. Appears 4% in Asia, 1% in Europe and absent from Africa. The change R<>W is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs6007 F5 coagulation factor V (proaccelerin, labile factor) - missense E1530A ('mk') 'GT' MAF = 0.00274. Possibly 3% in Europe, 2% in Asia and absent form Africa. The change E<>A is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs9164 ALDH9A1 aldehyde dehydrogenase 9 family, member A1 - UTR-3 ('sj') 'CT' MAF = 0.00228. The 1000 Genome Project gives 2 per 1000. ---------------------------------------------------------------------------------------------------------------- rs11283 PIGR polymeric immunoglobulin receptor - UTR-3 ('gn') 'AG' MAF = 0.00868 Possibly 2% in Europe and 4% in Africa. ---------------------------------------------------------------------------------------------------------------- rs15854 MTHFR methylenetetrahydrofolate reductase (NAD(P)H) - UTR-3 'AG' MAF = 0.00000 An uncommon SNP. ('jr') 'GG' ---------------------------------------------------------------------------------------------------------------- rs158729 Intergenic - ('mj') 'AG' MAF = 0.00228 Possibly 2% in Europe and less elsewhere. ---------------------------------------------------------------------------------------------------------------- rs170954 VPS13D vacuolar protein sorting 13 homolog D (S. cerevisiae) - intron ('cc') 'AC' MAF = 0.00776. Appears 9% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs212987 SLC5A9 solute carrier family 5 (sodium/glucose cotransporter) - intron ('rz') 'AG' MAF = 0.00914 Appears to be about 8% in Europe. ---------------------------------------------------------------------------------------------------------------- rs236290 BCAR3 breast cancer anti-estrogen resistance 3 - intron ('cm') 'CT' MAF = 0.00868. Possibly up to 12% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs279022 NECAP2 NECAP endocytosis associated 2 - UTR-3 ('le') 'CT' MAF = 0.00228 Possibly 4% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs399967 Intergenic - ('mw') 'AG' MAF = 0.00914. The 1000 Genome Project gives about 1%. ---------------------------------------------------------------------------------------------------------------- rs486916 Intergenic - ('ac') 'AG' MAF = 0.00365. The 1000 genome Project gives 3 per 1000. ---------------------------------------------------------------------------------------------------------------- rs527787 Intergenic - ('rz') 'GT' MAF = 0.00959. Maybe 8% in Europe. ---------------------------------------------------------------------------------------------------------------- rs565156 KIAA1107 KIAA1107 - missense T993N ('gn') 'AC' MAF = 0.00594 Possibly 1% in Europe and absent elsewhere. The change T<>N is uncommon, but the amino acids are similar. ---------------------------------------------------------------------------------------------------------------- rs602009 Intergenic - ('mh','eb') 'AG' MAF = 0.00868 Maybe 11% in Europe, but uncommon elsewhere. ---------------------------------------------------------------------------------------------------------------- rs617545 SIPA1L2 signal-induced proliferation-associated 1 like 2 - intron ('kr') 'CT' MAF = 0.00914 Maybe 4% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs632992 Intergenic - ('ss') 'AG' MAF = 0.00548. Possibly 7% in Europe and less elsewhere. ---------------------------------------------------------------------------------------------------------------- rs689469 PTGS2 prostaglandin-endoperoxide synthase 2 - UTR-3 ('dw') 'CT' MAF = 0.00914. The 1000 Genome Project gives about 1%. ---------------------------------------------------------------------------------------------------------------- rs710250 MED8 mediator complex subunit 8 - nearGene-3 ('je') 'AG' MAF = 0.00457 Appears 1% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs822734 ARF1 ADP-ribosylation factor 1 - nearGene-5 ('k') 'GT' MAF = 0.00400. Maybe 1% in Europe and Africa. ---------------------------------------------------------------------------------------------------------------- rs846103 ACOT7 acyl-CoA thioesterase 7 - intron ('rr') 'CT' MAF = 0.00548. Appears 3% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs859007 CD1D CD1d molecule - nearGene-5 ('ba') 'AG' MAF = 0.00685. Appears 8% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs923296 Intergenic - ('ly') 'CT' MAF = 0.00182. The 1000 Genome Project gives just 1 per 1000. ---------------------------------------------------------------------------------------------------------------- rs943639 Intergenic - ('kw') 'AG' MAF = 0.00639 Maybe 4% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs964201 ASPM asp (abnormal spindle) homolog, microcephaly associated (Drosophila) - missense Y2494H ('rm') 'AG' MAF = 0.00228 Appears 2% in Asia, 1% in Europe and absent from Africa. The change is common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs1007860 TESK2 testis-specific kinase 2 - intron ('mw') 'GT' MAF = 0.00548. Appears 3% in Asia, 1% in Europe and absent from Africa. ---------------------------------------------------------------------------------------------------------------- rs1022643 TRIM67 tripartite motif containing 67 - intron ('jo') 'AG' MAF = 0.00594 Appears 25% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs1024221 SPAG17 sperm associated antigen 17 - intron ('pc') 'CT' MAF = 0.00731 Appears 5% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs1053360 RHD Rh blood group, D antigen - missense V238M (1) ('eb') 'AG' MAF = 0.00000 Poor data. Maybe 1 per 1000 - so an uncommon variant. The change V<>M is common. ---------------------------------------------------------------------------------------------------------------- rs1057624 MTHFR methylenetetrahydrofolate reductase (NAD(P)H) - UTR-3 ('bb') 'CT' MAF = 0.00959. The 1000 Genome Project gives 1%. ---------------------------------------------------------------------------------------------------------------- rs1109918 IL12RB2 interleukin 12 receptor, beta 2 - UTR-3 ('pc') 'AG' MAF = 0.00822. Possibly up to 5% in parts of Europe. ---------------------------------------------------------------------------------------------------------------- rs1181088 TCEANC2 transcription elongation factor A (SII) - UTR-3 ('b') 'AG' MAF = 0.00959 Maybe 1% in Europe and less elsewhere ---------------------------------------------------------------------------------------------------------------- rs1195473 ATF3 activating transcription factor 3 - nearGene-5 ('vs') 'CT' MAF = 0.00502. Appears 6% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs1284304 CD160 CD160 molecule - intron ('bb') 'AC' MAF = 0.00365. Possibly 4% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs1258021 Intergenic - ('mj') 'CT' MAF = 0.00457. Appears 2% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs1389793 Intergenic - ('jd') 'AC' MAF = 0.00822 The 1000 Genome Project gives 8 per 1000. ---------------------------------------------------------------------------------------------------------------- rs1413330 Intergenic - ('gg') 'CT' MAF = 0.00776 Appears 8% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs1484324 ERMAP erythroblast membrane-associated protein (Scianna blood group) - UTR-3 ('wh') 'AG' MAF = 0.00950 Appears 30% in Asia, 10% in Africa and absent from Europe. ---------------------------------------------------------------------------------------------------------------- rs1527829 AGBL4 ATP/GTP binding protein-like 4 - intron ('oi') 'CT' MAF = 0.00914. Appears 5% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs1539656 PDE4DIP phosphodiesterase 4D interacting protein - intron ('i') 'CT' MAF = 0.00000. Appears uncommon in Europe, possibly 15-25% elsewhere. ---------------------------------------------------------------------------------------------------------------- rs1611772 MUC1 mucin 1, cell surface associated - UTR-3 ('br') 'AG' MAF = 0.00776. Appears about 1% worldwide. ---------------------------------------------------------------------------------------------------------------- rs1627675 PDE4DIP phosphodiesterase 4D interacting protein - intron ('i') 'AG' MAF = 0.00000. Appears uncommon in Europe, possibyy 10-15% elsewhere. ---------------------------------------------------------------------------------------------------------------- rs1628500 Intergenic - ('aa') 'CT' MAF = 0.00900. Possibly 30% in Asia and 1-2% elsewhere. ---------------------------------------------------------------------------------------------------------------- rs1779288 PKP1 plakophilin 1 (ectodermal dysplasia/skin fragility syndrome) - intron ('st') 'CT' MAF = 0.00639. Apears 9% in Africa and absent elewhere. ---------------------------------------------------------------------------------------------------------------- rs1800554 ABCA4 ATP-binding cassette, sub-family A (ABC1), member 4 - missense L1970F ('mh') 'AG' MAF = 0.00400. Only about 4 per 1000 worldwide. The change L<>F is reasonably common, so not really likely to be significant. ---------------------------------------------------------------------------------------------------------------- rs1800585 AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8) - UTR-5 ('mj') 'AG' MAF = 0.00045. The 1000 genome Project gives 1 per 2250 ---------------------------------------------------------------------------------------------------------------- rs1801666 ABCA4 ATP-binding cassette, sub-family A (ABC1), member 4 - synonymous P1401P ('kw') 'GT' MAF = 0.00594. Possibly 4% worldwide. ---------------------------------------------------------------------------------------------------------------- rs1886136 LOC100506899 uncharacterized LOC100506899 - ncRNA ('lk') 'CT' MAF = 0.00548. Appears 5% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs2039401 FCRL4 Fc receptor-like 4 - missense K457R ('en') 'CT' MAF = 0.00959. Appears 12% in Africa and absent elsewhere. The change K<>R is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs2075740 SPRR3 small proline-rich protein 3 - missense T156M ('vv') 'CT' MAF = 0.00274 Appears 3% in Asia and absent elsewhere. The change T<>M is common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs2229297 E2F2 E2F transcription factor 2 - missense G205R ('dh') 'CT' MAF = 0.00457. Appears 2% in Asia, 1% in Europe, and absent from Africa. The change G<>R is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs2231304 Intergenic - ('tg') 'AG' MAF = 0.00822. Appears 6% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs2231855 ETV3 ets variant 3 - intron ('mh') 'AG' MAF = 0.00776. Maybe 7% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs2233851 RFX5 regulatory factor X, 5 (influences HLA class II expression) - missense R197Q ('ae') 'CT' MAF = 0.00959. Appears 3% in Europe, 1% in Asia and absent from Africa. The change R<>Q is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs2234698 EPHX1 epoxide hydrolase 1, microsomal (xenobiotic) - synonymous D68D ('jv') 'CT' MAF = 0.00731 Appears 2% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs2243199 IL19 interleukin 19 - UTR-3 ('an') 'AG' MAF = 0.00365 Appears 3% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs2260965 Intergenic - ('mo') 'AG' MAF = 0.00365 Appears 1% in Europe. ---------------------------------------------------------------------------------------------------------------- rs2271011 ATF6 activating transcription factor 6 - missense D109G (2) ('ba') 'AG' MAF = 0.00000. Appears 1% in Asia and absent elsewhere. The change D<>G is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs2271458 TRAF5 TNF receptor-associated factor 5 - missense N186H ('jy') 'AC' MAF = 0.00776 Appears 7% in Asia. The change N<>H is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs2274121 ADPRHL2 ADP-ribosylhydrolase like 2 - intron ('q4') 'GT' MAF = 0.00228. Appears 4% in Asia and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs2275237 ARNT aryl hydrocarbon receptor nuclear translocator - missense P691L ('tk') 'AG' MAF = 0.00000. Possibly 2% in Asia and absent elsewhere. The change P<>L is fairly common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs2275654 TARBP1 TAR (HIV-1) RNA binding protein 1 - missense I1461V ('aa') 'CT' MAF = 0.00548. Appears 7% in Asia and absent elsewhere. The change I<>V is common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs2282298 LCE5A late cornified envelope 5A - missense R79X ('vv') 'CT' MAF = 0.00548. appears 6% in Asia and absent elsewhere. The protein is truncated and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs2282440 SDC3 syndecan 3 - missense T329I ('pa') 'AG' MAF = 0.00000. Appears 60% in Japan, 2% in Africa and absent from Europe. ('mi') 'AA' The change T<>I is very common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs2290499 HSPG2 heparan sulfate proteoglycan 2 - synonymous A2397A ('er') 'CT' MAF = 0.00228 Possibly 6% in Asia and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs2297896 DENND4B DENN/MADD domain containing 4B - synonymous Y701Y ('q4') 'AG' MAF = 0.00411. Appears 4% in Asia and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs2318976 HIST2H2AA3 histone cluster 2, H2aa3 - nearGene-5 ('re') 'CT' MAF = 0.00000 An uncommon SNP. ---------------------------------------------------------------------------------------------------------------- rs2294876 GPN2 GPN-loop GTPase 2 - UTR-3 ('sy') 'AG' MAF = 0.00365. Appears 4% in Asia and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs2296266 MAP7D1 MAP7 domain containing 1 - missense R104W ('rz') 'CT' MAF = 0.00411. Rare in Europe, but maybe 10% in parts of Asia. The change R<>W is rare and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs2303193 CELA2A chymotrypsin-like elastase family, member 2A - missense N257S ('il') 'AG' MAF = 0.00137. Appears 2% in Asia, 1% in Europe, and absent from Africa. The change N<>S is common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs2307426 NR1I3 nuclear receptor subfamily 1, group I, member 3 - intron ('sh') 'CT' MAF = 0.00319. Appears 2% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs2308950 CASP9 caspase 9, apoptosis-related cysteine peptidase - missense R90H ('pi') 'CT' MAF = 0.00594. Possibly 8% in Europe, and less elsewhere. The change R<>H is uncommon and the homozygous form could be significant ---------------------------------------------------------------------------------------------------------------- rs2430083 Intergenic - ('dg') 'CT' MAF = 0.00731. Possibly 8% in Europe and higher in Asia. ---------------------------------------------------------------------------------------------------------------- rs2478537 COG2 component of oligomeric golgi complex 2 - intron ('fk') 'AG' MAF = 0.00639. Appears 10% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs2487699 KLF17 Kruppel-like factor 17 - UTR-3 ('ju') 'AG' MAF = 0.00914 The 1000 Genome Project gives 9 per 1000. ('na') 'AA' ---------------------------------------------------------------------------------------------------------------- rs2694949 Intergenic - ('sy') 'AG' MAF = 0.00914 Appears 11% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs2753362 Intergenic - ('hs') 'CT' MAF = 0.00319 The 1000 Genome Project gives 3 per 1000. ---------------------------------------------------------------------------------------------------------------- rs2784410 PDZK1 PDZ domain containing 1 - intron 'AC' MAF = 0.00999 No population data. ---------------------------------------------------------------------------------------------------------------- rs2788509 FRRS1 ferric-chelate reductase 1 - intron ('mq') 'CT' MAF = 0.00274. Appears 40% in Africa, 2% in Asia and absent from Europe. ---------------------------------------------------------------------------------------------------------------- rs2788685 Intergenic - ('aw') 'AC' MAF = 0.00914 Appears 7% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs2800885 Intergenic - ('eb') 'CT' MAF = 0.00959 Maybe 2% in Europe and Africa, and absent in Asia. ---------------------------------------------------------------------------------------------------------------- rs2811180 DPYD dihydropyrimidine dehydrogenase - intron ('ds') 'CT' MAF = 0.00000. An uncommon SNP. No further data. ---------------------------------------------------------------------------------------------------------------- rs2842726 C1orf116 chromosome 1 open reading frame 116 - missense S444P ('rr') 'AG' MAF = 0.00411 Possibly 2% in Europe, 1% in Asia and absent from Africa. The change S<>P is common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs2854449 EPHX1 epoxide hydrolase 1, microsomal (xenobiotic) - intron ('lr') 'AG' MAF = 0.00182 An uncommon SNP. ---------------------------------------------------------------------------------------------------------------- rs3001722 Intergenic - ('ls') 'AT' MAF = 0.00731 Possibly about 2% in Europe. ---------------------------------------------------------------------------------------------------------------- rs3024510 IL10 interleukin 10 - UTR-3 ('pa') 'AT' MAF = 0.00365 Maybe 4% in Europe and less elsewhere. ---------------------------------------------------------------------------------------------------------------- rs3026906 ECE1 endothelin converting enzyme 1 - missense R742C ('au') 'AG' MAF = 0.00000. An uncommon SNP. The change R<>C is uncommon and the homozygous form could be significant. See perhaps: http://omim.org/entry/600423 ---------------------------------------------------------------------------------------------------------------- rs3093647 TMEM50A transmembrane protein 50A - missense A58V ('zn') 'CT' MAF = 0.00411 Appears 3% in Europe, 2% in Asia, absent from Africa. The change A<>V is common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs3176475 CDKN2C cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4) - UTR-3 ('mj') 'AG' MAF = 0.00091 The 1000 Genome Project gives 9 per 1000. ---------------------------------------------------------------------------------------------------------------- rs3737523 IFI16 interferon, gamma-inducible protein 16 - synonymous L586L ('k') 'CT' MAF = 0.00502 Appears 1% in Europe and a little higher in Asia. ---------------------------------------------------------------------------------------------------------------- rs3738455 PAFAH2 platelet-activating factor acetylhydrolase 2, 40kDa - UTR-3 ('wh') 'CT' MAF = 0.00548 Possibly 4% in Asia and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs3738497 LEPRE1 leucine proline-enriched proteoglycan (leprecan) 1 - missense Q644K ('vv') 'GT' MAF = 0.00685 Appears 9% in Asia, 3% in Europe and absent from Africa. The change Q<>K is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs3738534 NID1 nidogen 1 - missense Q669R ('er') 'CT' MAF = 0.00045 Possibly 2% in Asia and absent elsewhere. The change Q<>R is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs3754338 PEX11B peroxisomal biogenesis factor 11 beta - intron ('nc') 'CT' MAF = 0.00411. Appears 2% in Asia and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs3754340 PEX11B peroxisomal biogenesis factor 11 beta - UTR-3 ('nc') 'GT' MAF = 0.00411. Appears 2% in Asia and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs3754341 PEX11B peroxisomal biogenesis factor 11 beta - nearGene-5 ('q4') 'AG' MAF = 0.00868. Appears 5% in Asia and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs3795339 KCNJ10 potassium inwardly-rectifying channel, subfamily J - missense R271H ('sy') 'CT' MAF = 0.00548. Possibly 7% in Asia and absent elsewhere. The change R<>H is uncommon and the homozygous from could be significant. ---------------------------------------------------------------------------------------------------------------- rs3811028 FCRL4 Fc receptor-like 4 - missense Y493C ('aa') 'CT' MAF = 0.00776. Appears 7% in Asia and absent elsewhere. The change Y<>C is fairly uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs4150001 EXO1 exonuclease 1 - missense G759E ('ah') 'AG' MAF = 0.00639 Appears 3% in Europe, 2% in Asia and 1% in Africa. The change G<>E is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs3766317 STIL SCL/TAL1 interrupting locus - missense A1146V ('jy') 'AG' MAF = 0.00091. Appears 2% in Asia and absent elsewhere. The change A<>V is common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs3768249 CTBS chitobiase, di-N-acetyl- - missense D310Y ('sy') 'AC' MAF = 0.00731. Appears 8% in Asia, 1% in Europe and absent from Africa. The change D<>Y is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs3789413 ABCA4 ATP-binding cassette, sub-family A (ABC1), member 4 - intron ('bt') 'AG' MAF = 0.00685 The 1000 Genome Project gives 6 per 1000. ---------------------------------------------------------------------------------------------------------------- rs3789683 F3 coagulation factor III (thromboplastin, tissue factor) - missense G281E ('cm') 'CT' MAF = 0.00639 Appears 1% in Europe and slightly more elsewhere. The change G<>E is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs3795363 ZCCHC11 zinc finger, CCHC domain containing 11 - synonymous K203K ('vv') 'CT' MAF = 0.00914. Appears 7% in Asia and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs3795564 NFASC neurofascin - missense T153M ('mj') 'CT' MAF = 0.00594. Appears 1% worldwide. The change T<>M is common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs3795682 UBXN11 UBX domain protein 11 - UTR-5 ('dd') 'AC' MAF = 0.00228. Appears 2% in Asia and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs3811428 SLC26A9 solute carrier family 26, member 9 - missense V744M (1) ('nl') 'CT' MAF = 0.00091. Appears 2% in Asia, 1% in Europe and absent from Africa. The change V<>M is common and is unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs3813963 DYRK3 dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3 - synonymous L342L ('mh') 'CT' MAF = 0.00685. Maybe 5% in Europe, but uncommon elsewhere. ---------------------------------------------------------------------------------------------------------------- rs3908615 Intergenic - ('na') 'CT' MAF = 0.00868. Appears 9% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs3917020 VCAM1 vascular cell adhesion molecule 1 - intron ('mh') 'GT' MAF = 0.00639 Maybe 6% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs3917398 SELE selectin E - UTR-5 ('m2') 'CT' MAF = 0.00228. The 1000 Genome Project gives 2 per 1000. ---------------------------------------------------------------------------------------------------------------- rs3917988 CSF3R colony stimulating factor 3 receptor (granulocyte) - synonymous A470A ('mj') 'CT' MAF = 0.00091. Appears 2 per 1000 worldwide. ---------------------------------------------------------------------------------------------------------------- rs3918020 CSF3R colony stimulating factor 3 receptor (granulocyte) - missense R440Q ('mj') 'CT' MAF = 0.00182. Appears 1% in Europe and absent elsewhere. The change R<>Q is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs3918290 DPYD dihydropyrimidine dehydrogenase - splice-5 ('rr') 'CT' MAF = 0.00228. Appears 1% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs4149864 EXO1 exonuclease 1 - missense V76I 'AG' MAF = 0.00639 Appears 6% in Africa and absent elsewhere. ('mn') 'AA' The change V<>I is common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs4373782 Intergenic - ('eb') 'CT' MAF = 0.00868 Maybe 6% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs4648298 PTGS2 prostaglandin-endoperoxide synthase 2 - UTR-3 ('mu') 'CT' MAF = 0.00914. Appears 3% in Europe. ---------------------------------------------------------------------------------------------------------------- rs4661096 Intergenic - ('gr') 'AG' MAF = 0.00000 Absent in Europe. Possibly up to 50% in parts of Africa. ---------------------------------------------------------------------------------------------------------------- rs4844609 CR1 complement component (3b/4b) receptor 1 (Knops blood group) - missense T2060S ('le') 'AT' MAF = 0.00731 Possibly 5% in Europe and Asia and absent from Africa. The change T<>S is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs4847195 ABCA4 ATP-binding cassette, sub-family A (ABC1), member 4 - intron ('kr') 'CT' MAF = 0.00685 Maybe 6% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs4906999 CTBS chitobiase, di-N-acetyl- - intron ('rp') 'CT' MAF = 0.00685. Appears 6% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs4908364 AHDC1 AT hook, DNA binding motif, containing 1 - missense A935T (1) ('nb') 'CT' MAF = 0.00137 Appears 3% in Europe and absent elsewhere. The change A<>T is common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs4915787 INADL InaD-like (Drosophila) - synonymous L888L ('nr') 'AG' MAF = 0.00365 Appears 4% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs4949212 Intergenic - ('ag') 'GT' MAF = 0.00959 Appears 3% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs4949495 TXLNA taxilin alpha - nearGene-5 ('mw') 'AC' MAF = 0.00400 The 1000 Genome Project gives 4 per 1000. ---------------------------------------------------------------------------------------------------------------- rs5745459 MSH4 mutS homolog 4 (E. coli) - missense Y589C ('i') 'AG' MAF = 0.00411 Maybe 2% in Europe and absent elsewhere. The change Y<>C is fairly uncommon, but not likely to be significant ---------------------------------------------------------------------------------------------------------------- rs5745989 TNFRSF1B tumor necrosis factor receptor superfamily, member 1B - intron ('ly') 'AG' MAF = 0.00868 Appears 5% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs6429447 Intergenic - ('al') 'AC' MAF = 0.00457 Appears 1% in Africa nad absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs6540718 DTL denticleless E3 ubiquitin protein ligase homolog (Drosophila) - missense K694T ('er') 'AC' MAF = 0.00502 Possibly 3% in Europe and Asia, and absent from Africa. The change K<>T is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs6657146 BNIPL BCL2/adenovirus E1B 19kD interacting protein like - UTR-3 ('jr') 'AG' MAF = 0.00914 Appears 8% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs6659222 ZBTB40 zinc finger and BTB domain containing 40 - missense A225T ('jr') 'AG' MAF = 0.00959 Appears 6% in Europe, 3% in Asia and 1% in Africa. The change A<>T is common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs6660399 Intergenic - ('er') 'AG' MAF = 0.00365 Appears 2% in Europe. ---------------------------------------------------------------------------------------------------------------- rs6660423 SMYD2 SET and MYND domain containing 2 - intron ('ai') 'GT' MAF = 0.00914 Appears 10% in Africa, 1% in Asia and absent form Europe. ---------------------------------------------------------------------------------------------------------------- rs6679078 F5 coagulation factor V (proaccelerin, labile factor) - missense K2185R ('yg') 'CT' MAF = 0.00365 Appears 3% in Africa and absent elsewhere. The change K<>R is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs6698679 Intergenic - ('ah') 'AG' MAF = 0.00914 Appears 9% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs6425087 Intergenic - ('ss') 'CT' MAF = 0.00365 Possibly 3% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs6657377 Intergenic - ('vs') 'GT' MAF = 0.00000 Possibly 21% in Africa, 7% in Asia and absent in Europe. ---------------------------------------------------------------------------------------------------------------- rs6663883 DAB1 disabled homolog 1 (Drosophila) - intron ('ti') 'CT' MAF = 0.00914 Appears 14% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs6674046 Intergenic - ('lk') 'CT' MAF = 0.00822 Appears 8% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs6674158 DPYD dihydropyrimidine dehydrogenase - intron ('rz') 'GT' MAF = 0.00411 Rare in Europe and Asia, maybe 4% in Africa. ---------------------------------------------------------------------------------------------------------------- rs6677717 ZMPSTE24 zinc metallopeptidase STE24 homolog (S. cerevisiae) - intron ('ag') 'GT' MAF = 0.00822 Uncommon. No proper population data. ---------------------------------------------------------------------------------------------------------------- rs6679870 Intergenic - ('gg') 'CT' MAF = 0.00868 Appears 3% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs6680872 Intergenic - ('kw') 'CT' MAF = 0.00000 Possibly absent in Europe and up to 46% in Africa. ---------------------------------------------------------------------------------------------------------------- rs6680990 H6PD hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) - nearGene-5 ('cc') 'AC' MAF = 0.00776 Appears 5% in Africa. ---------------------------------------------------------------------------------------------------------------- rs6696670 Intergenic - ('kr') 'AG' MAF = 0.00868 Maybe 11% in Europe and very low elsewhere. ---------------------------------------------------------------------------------------------------------------- rs6697829 Intergenic - ('cm') 'CT' MAF = 0.00868 Appears about 2% worldwide. ---------------------------------------------------------------------------------------------------------------- rs7513888 DPYD dihydropyrimidine dehydrogenase - intron ('gm') 'CG' MAF = 0.00319 Appears 1% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs7525922 DPYD dihydropyrimidine dehydrogenase - intron ('za') 'CT' MAF = 0.00776 Appears 5% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs7511779 ZZZ3 zinc finger, ZZ-type containing 3 - intron ('na') 'CT' MAF = 0.00000 Appears 9% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs7517866 CEP170 centrosomal protein 170kDa - intron ('er') 'CT' MAF = 0.00950 Possibly very high in Africa and 3% in Asia. ---------------------------------------------------------------------------------------------------------------- rs7529014 Intergenic - ('ct') 'CT' MAF = 0.00914 Appears 11% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs7535948 Intergenic - ('ao') 'AG' MAF = 0.00639 Appears 1% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs7544257 Intergenic - ('cd') 'AG' MAF = 0.00800 Appears about 1% worldwide. ---------------------------------------------------------------------------------------------------------------- rs7549007 Intergenic - ('i','kr') 'CT' MAF = 0.00914 Maybe 5% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs7552708 DPYD dihydropyrimidine dehydrogenase - intron ('cd') 'AG' MAF = 0.00000 An uncommon SNP, poor population data. ---------------------------------------------------------------------------------------------------------------- rs8176781 HDAC1 histone deacetylase 1 - UTR-3 ('au') 'CT' MAF = 0.00914. Appears 4% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs8177988 PKLR pyruvate kinase, liver and RBC - missense V506I ('jd') 'CT' MAF = 0.00274. The 1000 Genome Project gives 2 per 1000. The change V<>I is common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs9332502 F5 coagulation factor V (proaccelerin, labile factor) - intron ('jv') 'AG' MAF = 0.00822. Appears 8% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs9332679 Intergenic - ('kw') 'CT' MAF = 0.00182. Possibly 1% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs9332688 F5 coagulation factor V (proaccelerin, labile factor) - intron ('rr') 'AG' MAF = 0.00091. Appears 1% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs9333059 CYP4A11 cytochrome P450, family 4, subfamily A, polypeptide 11 - synonymous P438P ('en') 'CT' MAF = 0.00045. Appears about 1% worldwide. ---------------------------------------------------------------------------------------------------------------- rs9333412 MGST3 microsomal glutathione S-transferase 3 - intron ('ut') 'AG' MAF = 0.00228 Possibly 1% in Europe. ---------------------------------------------------------------------------------------------------------------- rs9427708 KIF14 kinesin family member 14 - intron ('mj') 'AC' MAF = 0.00914 Appears 1% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs9435607 AMY2B amylase, alpha 2B (pancreatic) - intron ('ls') 'AG' MAF = 0.00685. Possibly 3% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs9442189 CLCNKA chloride channel Ka - missense R103H ('pa') 'AG' MAF = 0.00731 Up to 2% worldwide. Possibly only in Europe. The change R<>H is uncommon, but the amino acids are similar. ---------------------------------------------------------------------------------------------------------------- rs10158124 DPYD dihydropyrimidine dehydrogenase - intron ('eb') 'CT' MAF = 0.00639 The 1000 Genome Project says 6 per 1000. ('sd') 'AA' ---------------------------------------------------------------------------------------------------------------- rs10158132 DPYD dihydropyrimidine dehydrogenase - intron ('mr') 'CT' MAF = 0.00639 Appears 1% in Europe and absent elsewhere. ('sd') 'CC' ---------------------------------------------------------------------------------------------------------------- rs10305700 ARNT aryl hydrocarbon receptor nuclear translocator - intron ('mh') 'AG' MAF = 0.00639. Maybe 2% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs10305740 ARNT aryl hydrocarbon receptor nuclear translocator - intron ('gg') 'AG' MAF = 0.00914. Appears 5% in Europe and less elsewhere. ---------------------------------------------------------------------------------------------------------------- rs10305742 ARNT aryl hydrocarbon receptor nuclear translocator - intron ('eb') 'AG' MAF = 0.00594 maybe about 1% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs10489634 CD2 CD2 molecule - intron ('ji') 'AG' MAF = 0.00137. Appears 1% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs10493040 SRSF4 serine/arginine-rich splicing factor 4 - intron ('bn') 'CT' MAF = 0.00776 Appears 3% in Africa, 2% in Asia, absent from Europe. ---------------------------------------------------------------------------------------------------------------- rs10493459 LRRC7 leucine rich repeat containing 7 - intron ('jy') 'GT' MAF = 0.00548 Appears 20% in Asia and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs10798899 LCK lymphocyte-specific protein tyrosine kinase - intron ('or') 'GT' MAF = 0.00548 The 1000 Genome Project gives 5 per 1000. ---------------------------------------------------------------------------------------------------------------- rs10920056 GPR25 G protein-coupled receptor 25 - synonymous A156A ('c5') 'GT' MAF = 0.00685 The 1000 Genome Project gives 6 per 1000. ---------------------------------------------------------------------------------------------------------------- rs10920273 LMOD1 leiomodin 1 (smooth muscle) - UTR-3 ('jy') 'CT' MAF = 0.00411 Appears 7% in Asia and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs10925953 Intergenic - ('lr') 'AG' MAF = 0.00731 Possibly 1% in Europe and Africa. ---------------------------------------------------------------------------------------------------------------- rs11120748 CD55 CD55 molecule, decay accelerating factor(Cromer blood group) - intron ('ao') 'CT' MAF = 0.00400 Appears 38% in Africa, 1% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs11162758 Intergenic - ('na') 'CT' MAF = 0.00548 Appears 10% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs11164224 RPAP2 RNA polymerase II associated protein 2 - intron ('za') 'CT' MAF = 0.00594 Possibly 8% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs11166534 SLC30A7 solute carrier family 30 (zinc transporter) - intron ('hu') 'AG' MAF = 0.00594 Possibly 3% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs11184304 Intergenic - ('mq') 'CT' MAF = 0.00731 Appears 12% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs11184324 Intergenic - ('mq') 'GT' MAF = 0.00822 Appears 13% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs11205295 Intergenic - 'AG' MAF = 0.00274 An uncommon SNP. ('mi') 'AA' ---------------------------------------------------------------------------------------------------------------- rs11207068 Intergenic - ('pa') 'AG' MAF = 0.00594 maybe 7% in Europe and less elsewhere. ---------------------------------------------------------------------------------------------------------------- rs11264496 IQGAP3 IQ motif containing GTPase activating protein 3 - missense D645N ('jj') 'CT' MAF = 0.00959 Possibly 13% in Africa, 2% in Asia and 1% in Europe. The change D<>N is fairly common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs11265565 NDUFS2 NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa - intron ('di') 'AG' MAF = 0.00868 Appears 10% in Africa, 1% in Europe and absent from Asia. ---------------------------------------------------------------------------------------------------------------- rs11465205 MUC1 mucin 1, cell surface associated - missense G205S (1) ('k') 'CT' MAF = 0.00639. Appears 5% in Europe. The change G<>S is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs11465827 IL23R interleukin 23 receptor - UTR-3 ('kr') 'GT' MAF = 0.00365 Maybe 3% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs11466111 NGF nerve growth factor (beta polypeptide) - missense R80Q ('nh') 'CT' MAF = 0.00502. Appears 2% in Asia and absent elsewhere. The change R<>Q is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs11419544 Intergenic - ('kw') 'DI' MAF = 0.00999 Appears to be fairly uncommon in Europe. ---------------------------------------------------------------------------------------------------------------- rs11541183 HDAC1 histone deacetylase 1 - missense F150S ('mh','kr') 'TT' MAF = 0.00999 No population data, but the homozygous form is presumably uncommon. ('ss') The change F<>S is common. ---------------------------------------------------------------------------------------------------------------- rs11548275 C1orf50 chromosome 1 open reading frame 50 - missense T178M ('pi') 'CT' MAF = 0.00731 Appears 7% in Europe and absent elsewhere. The change T<>M is common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs11549668 LMNA lamin A/C - synonymous S17S ('cc') 'CT' MAF = 0.00594 The 1000 Genome Project gives 5 per 1000, ---------------------------------------------------------------------------------------------------------------- rs11571554 ATF3 activating transcription factor 3 - synonymous N125N ('al') 'CT' MAF = 0.00600 The 1000 Genome Project give 6 per 1000. ---------------------------------------------------------------------------------------------------------------- rs11572262 CYP2J2 cytochrome P450, family 2, subfamily J, polypeptide 2 - intron ('tg') 'CT' MAF = 0.00731. Appears 1% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs11572282 CYP2J2 cytochrome P450, family 2, subfamily J, polypeptide 2 - intron ('hs') 'AG' MAF = 0.00045. Appears 1% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs11573178 Intergenic - ('mq') 'CT' MAF = 0.00600. The 1000 Genome Project gives 6 per 1000. ---------------------------------------------------------------------------------------------------------------- rs11576267 SIPA1L2 signal-induced proliferation-associated 1 like 2 - intron ('ma') 'AG' MAF = 0.00959 Appears 10% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs11577123 Intergenic - ('ne') 'AC' MAF = 0.00457 Appears 3% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs11578281 FMO3 flavin containing monooxygenase 3 - UTR-5 ('yg') 'AG' MAF = 0.00365 Appears 3% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs11578472 Intergenic - ('b') 'GT' MAF = 0.00868 Uncommon, appears 1% in Europe. ---------------------------------------------------------------------------------------------------------------- rs11579106 COX20 COX20 Cox2 chaperone homolog (S. cerevisiae) - UTR-3 ('eb') 'CT' MAF = 0.00639 Maybe 5% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs11579653 LMX1A LIM homeobox transcription factor 1, alpha - UTR-3 ('i') 'AG' MAF = 0.00639 Appears 13% in Europe and much less elsewhere. ---------------------------------------------------------------------------------------------------------------- rs11580952 PIGV phosphatidylinositol glycan anchor biosynthesis, class V - nearGene-5 ('nj') 'AG' MAF = 0.00400 Appears 1% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs11581805 Intergenic - ('ta') 'AG' MAF = 0.00457 Possibly 6% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs11581878 C1orf112 chromosome 1 open reading frame 112 - intron ('mj') 'CT' MAF = 0.00685 Appears 2% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs11582147 Intergenic - 'CT' MAF = 0.00400 Appears 1% in Europe. ---------------------------------------------------------------------------------------------------------------- rs11582772 SPOCD1 SPOC domain containing 1 - intron ('sv') 'CT' MAF = 0.00548 Appears 6% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs11583297 Intergenic - ('nj') 'CT' MAF = 0.00000 Uncommon, however appears 1% in Italy. ---------------------------------------------------------------------------------------------------------------- rs11584381 CDA cytidine deaminase - intron ('mj') 'CT' MAF = 0.00822 Appears 1% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs11586396 Intergenic - ('gn') 'CT' MAF = 0.00411 Maybe 2% in Europe and absent elsewhere. -------------------------------------------------------------------------------------------------------------- rs11586876 RPAP2 RNA polymerase II associated protein 2 - intron ('na') 'AG' MAF = 0.00319 Appears 4% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs11588242 DPYD dihydropyrimidine dehydrogenase - intron ('oi') 'CT' MAF = 0.00274 Appears 3% in Euope, 2% in Africa and absent from Asia. ---------------------------------------------------------------------------------------------------------------- rs11588250 Integenic - ('ar') 'GT' MAF = 0.00000 An uncommon SNP. ---------------------------------------------------------------------------------------------------------------- rs11590012 DCDC2B doublecortin domain containing 2B - missense H293Q ('tg') 'AC' MAF = 0.00776 Perhaps 10% in Europe and 2% in Asia. The change H<>Q is uncommon, but the homozygous form is perhaps too common. ---------------------------------------------------------------------------------------------------------------- rs11590013 DCDC2B doublecortin domain containing 2B - synonymous R294R ('tg') 'AC' MAF = 0.00776 Possibly 8% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs11590152 Intergenic - ('kr') 'CT' MAF = 0.00548 Maybe 4% in Europe and very low elsewhere. ---------------------------------------------------------------------------------------------------------------- rs11465206 MUC1 mucin 1, cell surface associated - intron ('bb') 'AG' MAF = 0.00639. The 1000 Genome Project gives 6 per 1000. ---------------------------------------------------------------------------------------------------------------- rs11572239 CYP2J2 cytochrome P450, family 2, subfamily J, polypeptide 2 - intron ('ng') 'CT' MAF = 0.00000. An uncommon SNP. ---------------------------------------------------------------------------------------------------------------- rs11572274 CYP2J2 cytochrome P450, family 2, subfamily J, polypeptide 2 - intron ('lz') 'AG' MAF = 0.00365. Appears 2% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs11577810 KPNA6 karyopherin alpha 6 (importin alpha 7) - nearGene-5 ('th') 'CT' MAF = 0.00594 Appears 1% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs11800171 DPYD dihydropyrimidine dehydrogenase - intron ('mg') 'CC' MAF = 0.00731 Appears 10% in Africa, 1% in Europe and absent from Asia. ---------------------------------------------------------------------------------------------------------------- rs11802605 Intergenic - ('za') 'CT' MAF = 0.00868 Possibly 12% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs11803281 TMEM54 transmembrane protein 54 - nearGene-5 ('ti') 'CT' MAF = 0.00868 The 1000 Genome Project ives 8 per 1000. ---------------------------------------------------------------------------------------------------------------- rs11803314 EIF2C4 eukaryotic translation initiation factor 2C, 4 - UTR-3 ('wh') 'CT' MAF = 0.00365 Appears 3% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs11805694 DPYD dihydropyrimidine dehydrogenase - intron ('mg') 'CC' MAF = 0.00731 Appears 10% in Africa, 1% in Europe and absent from Asia. ---------------------------------------------------------------------------------------------------------------- rs11810505 LCK lymphocyte-specific protein tyrosine kinase - intron ('ti') 'CT' MAF = 0.00502 Appears 2% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs11812084 DPYD dihydropyrimidine dehydrogenase - intron ('mg') 'GG' MAF = 0.00959 Appears 8% in Africa, 1% in Europe and absent from Asia. ---------------------------------------------------------------------------------------------------------------- rs12029268 LURAP1 leucine rich adaptor protein 1 - intron ('wh') 'CT' MAF = 0.00274 Uncommon SNP, but The 1000 Genome Project finds 2 per 1000. ---------------------------------------------------------------------------------------------------------------- rs12031658 SLC16A1 solute carrier family 16, member 1 - intron ('q4') 'AT' MAF = 0.00000 Appears 2% in Asia and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs12033517 DPYD dihydropyrimidine dehydrogenase - intron 'CT' MAF = 0.00000 An uncommon SNP. ('f0') 'TT' ---------------------------------------------------------------------------------------------------------------- rs12034509 NKAIN1 Na+/K+ transporting ATPase interacting 1 - intron ('me') 'CT' MAF = 0.00600 The 1000 Genome Project gives 6 per 1000. ---------------------------------------------------------------------------------------------------------------- rs12037348 Intergenic - ('wh') 'GT' MAF = 0.00365 Appears 3% in Africa. ---------------------------------------------------------------------------------------------------------------- rs12037377 Intergenic - ('j4') 'AG' MAF = 0.00822 Appears 9% in Asia, 1% in Europe and absent from Africa. ---------------------------------------------------------------------------------------------------------------- rs12039609 FMO4 flavin containing monooxygenase 4 - intron ('en') 'GT' MAF = 0.00822 Appears 2% in Asia and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs12041305 Intergenic - ('jy') 'AG' MAF = 0.00731 Appears 4% in Asia and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs12043139 AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase - missense R1253H (2) ('sa') 'AG' MAF = 0.00914 Appears 19% in Asia, 2% in Africa and 1% in Europe. The change R<>H is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs12058217 Intergenic - ('dm') 'CT' MAF = 0.00822 Possibly 4% in Europe and Asia. ---------------------------------------------------------------------------------------------------------------- rs12069163 Intergenic - ('en') 'CT' MAF = 0.00822 Appears 8% in Africa, 1% in Africa and absent from Asia. ---------------------------------------------------------------------------------------------------------------- rs12073049 Intergenic - ('ag','dg') 'GT' MAF = 0.00900 Possibly 1% in Europe and a little higher elsewhere. ---------------------------------------------------------------------------------------------------------------- rs12077095 Intergenic - ('mz') 'GT' MAF = 0.00868 Appears 11% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs12077424 CAMSAP2 calmodulin regulated spectrin-associated protein family - intron ('mp') 'AG' MAF = 0.00731 Appears 9% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs12078326 Intergenic - ('mq') 'AC' MAF = 0.00959 Appears 13% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs12095576 DISC1 disrupted in schizophrenia 1 - intron ('eb') 'AG' MAF = 0.00502 Maybe uncommon in Europe and 5% in Africa. ---------------------------------------------------------------------------------------------------------------- rs12097550 CFHR5 complement factor H-related 5 - missense P46S ('kw') 'CT' MAF = 0.00959 Appears 5% in Europe and Africa. The change P<>S is faily common and maybe not significant. ---------------------------------------------------------------------------------------------------------------- rs12116440 AK2 adenylate kinase 2 - missense A209T ('dm') 'CT' MAF = 0.00548 The change A<>T is common and the this SNP is unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs12117552 LMNA lamin A/C - synonymous L204L ('sm') 'AG' MAF = 0.00365 Appears 1% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs12119653 DPYD dihydropyrimidine dehydrogenase - intron ('gn') 'GT' MAF = 0.00182 About 1% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs12121492 PER3 period homolog 3 (Drosophila) - synonymous T974T ('nd') 'AG' MAF = 0.00300 The 1000 Genome Project gives 3 per 1000. ---------------------------------------------------------------------------------------------------------------- rs12123811 Intergenic - ('je') 'CT' MAF = 0.00868 Appears 10% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs12127732 ZCCHC11 zinc finger, CCHC domain containing 11 - missense D796Y ('bc') 'AC' MAF = 0.00548 Appears 4% in Europe and Asia, and absent from Africa. The change D<>Y is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs12130280 HENMT1 HEN1 methyltransferase homolog 1 (Arabidopsis) - intron ('cm') 'CT' MAF = 0.00411 Appears to be about 1% worldwide. ---------------------------------------------------------------------------------------------------------------- rs12137578 CTTNBP2NL CTTNBP2 N-terminal like - missense S409G ('md') 'AG' MAF = 0.00182 Appears 2% in Europe and absent elsewhere. The change S<>G is fairly common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs12139973 Intergenic - ('f0') 'GT' MAF = 0.00502 Possibly 2% in Asia and Europe, absent in Africa. ---------------------------------------------------------------------------------------------------------------- rs12141031 ZNF642 zinc finger protein 642 - nearGene-5 ('ek') 'AG' MAF = 0.00000 An uncommon SNP. ---------------------------------------------------------------------------------------------------------------- rs12141357 FMO1 flavin containing monooxygenase 1 - intron ('th') 'CT' MAF = 0.00914 Appears 3% in Europe and Africa, absent in Asia. ---------------------------------------------------------------------------------------------------------------- rs12141657 DPYD dihydropyrimidine dehydrogenase - intron ('gn') 'AG' MAF = 0.00776 Possibly 3% in Europe and absent elsewhere. ------------------------------------------------------------------------------------------------------------- rs12142450 URB2 URB2 ribosome biogenesis 2 homolog (S. cerevisiae) - missense V1400M ('bb') 'AG' MAF = 0.00274 Possibly 1% in Europe and absent elsewhere. The change V<>M is common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs12143366 FMO6P flavin containing monooxygenase 6 pseudogene - intron ('lr') 'GT' MAF = 0.00822 Appears 5% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs12143929 Intergenic - ('dm') 'CT' MAF = 0.00411 Possibly 2% in Europe and absent elsewhere. ('tg') 'TT' a 'RARE' result. ---------------------------------------------------------------------------------------------------------------- rs12144658 Intergenic - ('ly') 'AG' MAF = 0.00776 Appears 7% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs12145368 FMO1 flavin containing monooxygenase 1 - intron ('th') 'GT' MAF = 0.00914 Appears 3% in Europe, 1% in Africa, absent in Asia. ---------------------------------------------------------------------------------------------------------------- rs12146134 CCT3 chaperonin containing TCP1, subunit 3 (gamma) - intron ('bc') 'CT' MAF = 0.00319 Possibly 1% in Europe. ---------------------------------------------------------------------------------------------------------------- rs12144395 DPYD dihydropyrimidine dehydrogenase - intron ('gn') 'CT' MAF = 0.00502 Possibly 1% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs12144868 SCMH1 sex comb on midleg homolog 1 (Drosophila) - intron ('ss') 'CT' MAF = 0.00000 Appears 12% in Asia, 8% in Asia and absent from Europe. ---------------------------------------------------------------------------------------------------------------- rs12401944 PRPF38B PRP38 pre-mRNA processing factor 38 (yeast) domain - intron ('cm') 'AG' MAF = 0.00594 Possibly 6% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs12407578 VPS13D vacuolar protein sorting 13 homolog D (S. cerevisiae) - missense S1341L (2) ('tt') 'CT' MAF = 0.00137 Appears 2% in Asia, 1% in Europe and absent from Africa. he change S<>L is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs12563522 SLC6A9 solute carrier family 6 (neurotransmitter transporter, glycine) - nearGene-3 ('aa') 'AG' MAF = 0.00400 Appears 4% in Asia and 1% in Europe. ---------------------------------------------------------------------------------------------------------------- rs12567063 TMEM39B transmembrane protein 39B - intron ('j4') 'AG' MAF = 0.00914 The 1000 Genome Project gives 9 per 1000. ---------------------------------------------------------------------------------------------------------------- rs12723567 HFE2 hemochromatosis type 2 (juvenile) - intron ('mh') 'AG' MAF = 0.00457 Maybe 1% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs12723967 DPYD dihydropyrimidine dehydrogenase - intron ('ss') 'CT' MAF = 0.00776 Possibly 3% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs12725009 MEGF6 multiple EGF-like-domains 6 - intron ('lz') 'AG' MAF = 0.00639 Appears 2% in Asia and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs12728476 Intergenic - ('ag') 'AG' MAF = 0.00228 Possibly as high as 9% in Europe. ---------------------------------------------------------------------------------------------------------------- rs12735723 PPOX protoporphyrinogen oxidase - missense P256R ('sh') 'CG' MAF = 0.00500 Appears 5% in Europe and absent elsewhere. The change P<>R is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs12746903 Intergenic - ('jn') 'CT' MAF = 0.00274 Appears 1-2% in Europe and Asia, absent from Africa. ---------------------------------------------------------------------------------------------------------------- rs12749581 MTR 5-methyltetrahydrofolate-homocysteine methyltransferase - missense R52Q ('si') 'AG' MAF = 0.00228 Appears 1% in Europe and absent elsewhere. The change R<>Q is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs12751479 DPYD dihydropyrimidine dehydrogenase - intron ('jw') 'GT' MAF = 0.00228 Appears 1% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs12751708 Intergenic - ('pz') 'CT' MAF = 0.00182 The 1000 Genome Project gives 1 per 1000. ---------------------------------------------------------------------------------------------------------------- rs12753135 DPYD dihydropyrimidine dehydrogenase - intron ('hs') 'AG' MAF = 0.00776 Uncommon, 1000 Genome Project gives 7 per 1000. ---------------------------------------------------------------------------------------------------------------- rs12754819 DAP3 death associated protein 3 - intron ('hs') 'CT' MAF = 0.00182 Uncommon, 1000 Genome Project gives 2 per 1000. ---------------------------------------------------------------------------------------------------------------- rs12759990 GDAP2 ganglioside induced differentiation associated protein 2 - UTR-3 ('bc') 'AG' MAF = 0.00091 Appears 1% in Italy. Perhaps absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs13306020 PTGER3 prostaglandin E receptor 3 (subtype EP3) - missense T319M (2) ('j4') 'AG' MAF = 0.00000. Appears 4% in Asia and absent elsewhere. The change T<>M is common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs13306581 NCF2 neutrophil cytosolic factor 2 - missense T279M ('mi') 'AG' MAF = 0.00731. Appears 10% in Asia and absent elsewhere. The change T<>M is common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs13376404 DPYD dihydropyrimidine dehydrogenase - intron ('ig') 'CT' MAF = 0.00959 Appears 2% in Africa, 1% in Europe and absent from Asia. ---------------------------------------------------------------------------------------------------------------- rs13447539 CDC7 cell division cycle 7 homolog (S. cerevisiae) - missense K441R ('nc') 'AG' MAF = 0.00548 Appears 7% in Asia and absent elsewhere. The change K<>R is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs16840359 Intergenic - ('jn') 'CT' MAF = 0.00639 The 1000 Genome Project gives 6 per 1000. ---------------------------------------------------------------------------------------------------------------- rs16826453 CDC42 cell division cycle 42 (GTP binding protein, 25kDa) - intron ('eb') 'CT' MAF = 0.00776 Maybe 1% in Europe, and 10% in Africa. ---------------------------------------------------------------------------------------------------------------- rs16826534 CDC42 cell division cycle 42 (GTP binding protein, 25kDa) - synonymous N92N ('eb') 'CT' MAF = 0.00182 Uncommon, maybe 1 per 1000 worldwide. ---------------------------------------------------------------------------------------------------------------- rs16826536 CDC42 cell division cycle 42 (GTP binding protein, 25kDa) - synonymous Y154Y ('eb') 'CT' MAF = 0.00914 Appears 3% worldwide, possibly highest in Africa. ---------------------------------------------------------------------------------------------------------------- rs16827032 ANKRD35 ankyrin repeat domain 35 - missense N978D ('bb') 'AG' MAF = 0.00822 Possibly 6% in Africa and 1% in Europe. The change N<>D is fairly common, but the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs16832968 CDC42SE1 CDC42 small effector 1 - nearGene-5 ('jr') 'CT' MAF = 0.00914 Possibly 8% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs16846495 ZBTB37 zinc finger and BTB domain containing 37 - intron ('al') 'CT' MAF = 0.00182 The 1000 Genome Project gives 1 per 1000. ---------------------------------------------------------------------------------------------------------------- rs16846879 KIF14 kinesin family member 14 - UTR-3 ('tk') 'AG' MAF = 0.00548 Possibly 4% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs16847867 Intergenic - ('cm') 'AG' MAF = 0.00000 Appears up to 40% in Africa, absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs16854004 C1orf131 chromosome 1 open reading frame 131 - nearGene-3 ('jo') 'AG' MAF = 0.00639 Appears 8% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs16857428 CACNA1E calcium channel, voltage-dependent, R type, alpha 1E subunit - intron ('na') 'AG' MAF = 0.00502 Appears 7% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs17015185 TRAF3IP3 TRAF3 interacting protein 3 - intron ('fk') 'CT' MAF = 0.00411 Appears 6% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs17015609 SYT14 synaptotagmin XIV - intron ('dd') 'AG' MAF = 0.00502 The 1000 Genome Project gives 5 per 1000. ---------------------------------------------------------------------------------------------------------------- rs17020144 VAV3 vav 3 guanine nucleotide exchange factor - intron ('jf') 'AG' MAF = 0.00868 Appears 14% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs17023329 CENPF centromere protein F, 350/400kDa (mitosin) - synonymous L1317L ('vs') 'CT' MAF = 0.00411 Possibly 8% in Asia and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs17505083 MACF1 microtubule-actin crosslinking factor 1 - intron ('na') 'CT' MAF = 0.00731 Appears 3% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs17163479 Intergenic - ('fk') 'CT' MAF = 0.00959 Appears 4% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs17277113 DNM3 dynamin 3 - intron ('kr') 'CT' MAF = 0.00868 Maybe 7% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs17277288 ABL2 v-abl Abelson murine leukemia viral oncogene homolog 2 - missense K930R ('b','kr') 'CT' MAF = 0.00776 Maybe 4% in Europe and absent elsewhere. The change K<>R is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs17229137 MTOR mechanistic target of rapamycin (serine/threonine kinase) - intron ('jh') 'CT' MAF = 0.00365. An uncommon SNP. ---------------------------------------------------------------------------------------------------------------- rs17229172 MTOR mechanistic target of rapamycin (serine/threonine kinase) - intron ('si') 'AG' MAF = 0.00457 No population data. ---------------------------------------------------------------------------------------------------------------- rs17349278 AJAP1 adherens junctions associated protein 1 - intron ('dm') 'GT' MAF = 0.00457 Possibly 4% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs17354559 PIAS3 protein inhibitor of activated STAT, 3 - missense S390C ('hs') 'CG' MAF = 0.00822 Possibly 3% in Europe 2% in Asia and absent from Africa. The change S<>C is unusual and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs17362452 PPP1R8 protein phosphatase 1, regulatory subunit 8 - nearGene-5 ('ar') 'CT' MAF = 0.00400 Appears 1% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs17366686 Intergenic - ('ss') 'AC' MAF = 0.00776 Possibly 4% in Europe and absent elsewhere. ('pg') 'CC' ---------------------------------------------------------------------------------------------------------------- rs17394875 CACHD1 cache domain containing 1 - intron ('bb') 'CT' MAF = 0.00959 Appears 8% in Europe, absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs17410855 CCDC17 coiled-coil domain containing 17 - missense V470I ('jn') 'CT' MAF = 0.00228 Appears 1% in Europe and absent elsewhere. The change V<>I is common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs17481405 LAMC2 laminin, gamma 2 - missense R115Q ('bn') 'AG' MAF = 0.00685 Appears 2% in Europe and Asia, absent from Africa. The change R<>Q is uncommon and the homozygous from could be significant. ---------------------------------------------------------------------------------------------------------------- rs17501388 SFT2D2 SFT2 domain containing 2 - intron ('cy') 'AG' MAF = 0.00685 Appears 11% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs17514253 F13B coagulation factor XIII, B polypeptide - synonymous K190K ('cv') 'CT' MAF = 0.00548. Appears 3% in Europe. ---------------------------------------------------------------------------------------------------------------- rs17514281 F13B coagulation factor XIII, B polypeptide - missense I342T ('mf') 'AG' MAF = 0.00457. The 1000 genome Project gives 4 per 1000. The change I<>T is commmon and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs17532330 AMY2B amylase, alpha 2B (pancreatic) - intron ('jl') 'CT' MAF = 0.00182 Appears 1-2% worldwide. ---------------------------------------------------------------------------------------------------------------- rs17559127 DNALI1 dynein, axonemal, light intermediate chain 1 - intron ('nk') 'AG' MAF = 0.00914 Appears 5% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs17570718 MACF1 microtubule-actin crosslinking factor 1 - unknown ('gg') 'AC' MAF = 0.00776 Appears 2% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs17578819 DNAH14 dynein, axonemal, heavy chain 14 - missense G1567E ('ls') 'AG' MAF = 0.00457 Appears about 4% in Europe and less elsewhere. The change G<>E is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs17582155 RORC RAR-related orphan receptor C - missense R10X ('tt') 'AG' MAF = 0.00045 Possibly 7% in Europe, 2% in Asia and absent from Africa. The change truncates the protein. ---------------------------------------------------------------------------------------------------------------- rs17612648 PTPRC protein tyrosine phosphatase, receptor type, C - unknown ('bb') 'CG' MAF = 0.00594 About 3% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs17875991 AGTRAP angiotensin II receptor-associated protein - intron ('ly') 'CT' MAF = 0.00594 The 1000 genome Project gives 5 per 1000. ---------------------------------------------------------------------------------------------------------------- rs17880087 GCLM glutamate-cysteine ligase, modifier subunit - missense I209M ('dw') 'CT' MAF = 0.00600. The 1000 Genome Project gives 6 per 1000. The change I<>M is common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs17887074 C1QA complement component 1, q subcomponent, A chain - missense E23K ('au') 'AG' MAF = 0.00500 Appearw 2% in Asia , 1% in Europe and absent from Africa. The change E<>K is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs28369860 FMO2 flavin containing monooxygenase 2 (non-functional) - missense V113X ('mh') 'DI' MAF = 0.00950 Maybe 25% in Africa, and very low in Europe. ('rm') 'DD' ---------------------------------------------------------------------------------------------------------------- rs28359647 CAPN9 calpain 9 - missense A239T ('dm') 'AG' MAF = 0.00594 Appears about 2% worldwide. The change A<>T is common and is not usually significant. ---------------------------------------------------------------------------------------------------------------- rs28360420 FMO1 flavin containing monooxygenase 1 - missense F1097L ('ds') 'CT' MAF = 0.00776 Possibly 8% in Africa and 1% in Europe. The change F<>L is common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs28363192 RAD54L RAD54-like (S. cerevisiae) - missense D21G ('bi') 'AG' MAF = 0.00411 The 1000 Genome Project gives 4 per 1000. The change D<>G is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs28363249 RAD54L RAD54-like (S. cerevisiae) - nearGene-3 ('mf') 'CT' MAF = 0.00274 The 1000 Genome Project gives 2 per 1000. ---------------------------------------------------------------------------------------------------------------- rs28369797 FMO2 flavin containing monooxygenase 2 (non-functional) - UTR-5 ('sv') 'CT' MAF = 0.00776 Possibly 13% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs28370127 CAPN2 calpain 2, (m/II) large subunit - missense E521Q ('k') 'CG' MAF = 0.00411 Appears 11 per 1000 worldwide. The change E<>Q is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs28384813 FMO1 flavin containing monooxygenase 1 - intron 'CT' MAF = 0.00600 Possibly 1% in Europe. ('za') 'CC' Uncommon. ---------------------------------------------------------------------------------------------------------------- rs28384834 FMO1 flavin containing monooxygenase 1 - intron ('oi') 'AG' MAF = 0.00457 The 1000 Genome Project gives 4 per 1000. ---------------------------------------------------------------------------------------------------------------- rs28384844 FMO1 flavin containing monooxygenase 1 - intron ('gm') 'CT' MAF = 0.00868 The 1000 Genome Project gives 8 per 1000. ---------------------------------------------------------------------------------------------------------------- rs28384848 FMO1 flavin containing monooxygenase 1 - intron ('k') 'CT' MAF = 0.00502 Appears 2% in Europe and less elsewhere. ---------------------------------------------------------------------------------------------------------------- rs28384850 FMO1 flavin containing monooxygenase 1 - intron ('ds') 'CT' MAF = 0.00868 The 1000 genome Project gives 8 per 1000. ---------------------------------------------------------------------------------------------------------------- rs28385652 FCN3 ficolin (collagen/fibrinogen domain containing) 3 - synonymous H250H ('tu') 'AG' MAF = 0.00137. The 1000 genome Project gives 1 per 1000. ---------------------------------------------------------------------------------------------------------------- rs28385701 PCSK9 proprotein convertase subtilisin/kexin type 9 - synonymous S47S ('gn') 'CT' MAF = 0.00045. Possibly 4% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs28414989 Intergenic - 'CT' MAF = 0.00999 Possibly 1% worldwide. ('je','dh') 'CC' ---------------------------------------------------------------------------------------------------------------- rs28415373 NOC2L nucleolar complex associated 2 homolog (S. cerevisiae) - intron ('pa') 'CT' MAF = 0.00411 Maybe 1% in Europe. ---------------------------------------------------------------------------------------------------------------- rs28615409 Intergenic - ('si') 'CT' MAF = 0.00776 Possibly 7% in Europe. ---------------------------------------------------------------------------------------------------------------- rs28633922 S100A13 S100 calcium binding protein A13 - intron ('fk') 'CT' MAF = 0.00502 The 1000 Genome Project gives 5 per 1000. ---------------------------------------------------------------------------------------------------------------- rs28914533 ABL2 v-abl Abelson murine leukemia viral oncogene homolog 2 - synonymous L304L ('gd') 'AG' MAF = 0.00228. Appears 9% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs28924117 MAD2L2 MAD2 mitotic arrest deficient-like 2 (yeast) - nearGene-3 ('k') 'AG' MAF = 0.00182 Maybe over 2% in Europe and less elsewhere. ---------------------------------------------------------------------------------------------------------------- rs28924120 FBXO6 F-box protein 6 - missense E280D ('c5') 'CG' MAF = 0.00000 Possibly 1% in Africa and absent elsewhere. The change E<>D is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs28936395 EPHB2 EPH receptor B2 - missense D679N (1) ('vt') 'AG' MAF = 0.00600 The 1000 Genome Project gives 6 per 1000. The change D<>N is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs33927012 SDHB succinate dehydrogenase complex, subunit B, iron sulfur (Ip) - missense S163P ('jk') 'AG' MAF = 0.00800. Possilby 1% in Europe. The change S<>P is common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs33981382 PADI4 peptidyl arginine deiminase, type IV - missense Y309C ('b') 'AG' MAF = 0.00639 Found in 13 per 1000 persons worldwide. The change Y<>C is fairly common and probably not harmful. ---------------------------------------------------------------------------------------------------------------- rs34001453 C1orf105 chromosome 1 open reading frame 105 - intron ('be') 'AG' MAF = 0.00228 Appears 2% worldwide. ('za') 'AA' A rare SNP in the homozygous form. ---------------------------------------------------------------------------------------------------------------- rs34101774 PHACTR4 phosphatase and actin regulator 4 - intron ('il') 'AG' MAF = 0.00137 The 1000 Genome Project gives 1 per 1000. ---------------------------------------------------------------------------------------------------------------- rs34441268 ERMAP erythroblast membrane-associated protein (Scianna blood group) - missense G263E ('yg') 'AG' MAF = 0.00137 The 1000 Genome Project gives 1 per 1000. The change G<>E is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs34638609 HSD3B1 hydroxy-delta-5-steroid dehydrogenase - missense D242N ('jy') 'AG' MAF = 0.00091 The 1000 Genome Project gives 1 per 1100. The change D<>N is fairly common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs34874759 Intergenic - ('jd') 'CT' MAF = 0.00822. The 1000 Genome Project gives 8 per 1000. ---------------------------------------------------------------------------------------------------------------- rs35427478 HSD3B1 hydroxy-delta-5-steroid dehydrogenase, 3 beta - missense S96F ('m2') 'CT' MAF = 0.00200 The 1000 Genome Project gives 2 per 1000. The change S<>F is common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs35669708 NTRK1 neurotrophic tyrosine kinase, receptor, type 1 - missense R780Q ('ss') 'AG' MAF = 0.00999 Possibly 1% worldwide. The change R<>Q is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs35777901 ASH1L ash1 (absent, small, or homeotic)-like (Drosophila) - intron ('dg') 'AG' MAF = 0.00731 Possibly 4% in Europe and 10% in Africa. ---------------------------------------------------------------------------------------------------------------- rs34248917 NPHP4 nephronophthisis 4 - missense R740H (2) ('le') 'CT' MAF = 0.00457 The 1000 Genome Project gives 4 per 1000. The change R<>H is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs34599082 DARC Duffy blood group, chemokine receptor - missense R89C ('ab') 'CT' MAF = 0.00502. Appears just under 2% worldwide. The change R<>C is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs34671474 TADA1 transcriptional adaptor 1 - UTR-3 ('le') 'AG' MAF = 0.00639 Possibly up to 3% in Europe. ---------------------------------------------------------------------------------------------------------------- rs35012521 NCF2 neutrophil cytosolic factor 2 - missense N374I ('cd') 'AT' MAF = 0.00319 Appears 1% worldwide. The change N<>I is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs35291796 PDZK1 PDZ domain containing 1 - intron ('jf') 'AG' MAF = 0.00400 Possibly 1% in Europe. ---------------------------------------------------------------------------------------------------------------- rs35292876 CFH complement factor H - synonymous H878H ('lr') 'CT' MAF = 0.00319 Possibly 4% in Europe and much less elsewhere. ---------------------------------------------------------------------------------------------------------------- rs35352606 TGFBR3 transforming growth factor, beta receptor III - missense P777S ('cm') 'AG' MAF = 0.00457. Appears 1% worldwide. The change P<>S is fairly common and this SNP is unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs35361974 AHDC1 AT hook, DNA binding motif, containing 1 - intron ('sk') 'CT' MAF = 0.00274 Appears about 2% in Europe and less elsewhere. ---------------------------------------------------------------------------------------------------------------- rs35366573 CD46 CD46 molecule, complement regulatory protein - missense A309V ('mh') 'CT' MAF = 0.00776 Appears 23 per 1000 worldwide. The change A<>V is very common. ---------------------------------------------------------------------------------------------------------------- rs35369423 F5 coagulation factor V (proaccelerin, labile factor) - synonymous L2103L ('f0') 'CT' MAF = 0.00300 Appears about 6 per 1000 worldwide. ---------------------------------------------------------------------------------------------------------------- rs35406306 PTGER3 prostaglandin E receptor 3 (subtype EP3) - intron ('my') 'GT' MAF = 0.00091. The 1000 Genome Project gives 1 per 1100. ---------------------------------------------------------------------------------------------------------------- rs35469947 RAB4A RAB4A, member RAS oncogene family - intron ('bb') 'AG' MAF = 0.00959 Appears 5% in Europe and less elsewhere. ---------------------------------------------------------------------------------------------------------------- rs35587044 PPOX protoporphyrinogen oxidase - nearGene-3 ('sh') 'AG' MAF = 0.00411 The 1000 Genome Project gives 4 per 1000. ---------------------------------------------------------------------------------------------------------------- rs35670571 Intergenic - ('vs') 'AG' MAF = 0.00228 The 1000 Genome Project gives 2 per 1000. ---------------------------------------------------------------------------------------------------------------- rs35698797 ABCB10 ATP-binding cassette, sub-family B (MDR/TAP), member 10 - missense D545N ('ss') 'CT' MAF = 0.00502 Appears 2% worldwide. The change D<>N is fairly common, but the amino acids are dissimilar in function. ---------------------------------------------------------------------------------------------------------------- rs35728345 ERMAP erythroblast membrane-associated protein (Scianna blood group) - UTR-3 ('il') 'AG' MAF = 0.00999 openSNP gives about 1%. ---------------------------------------------------------------------------------------------------------------- rs35737219 MTHFR methylenetetrahydrofolate reductase (NAD(P)H) - missense T653M ('lr') 'AG' MAF = 0.00776 Appears about 3% worldwide. The change T<>M is common and this SNP is unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs35730265 USH2A Usher syndrome 2A (autosomal recessive, mild) - missense E478D ('i','pa') 'CG' MAF = 0.00800 Appears 17 per 1000 worldwide. The change E<>D is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs35802556 PER3 period homolog 3 (Drosophila) - missense T1111I ('ng') 'CT' MAF = 0.00137 The 1000 Genome Project gives 1 per 1000. The change T<>I is common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs35814900 CFH complement factor H - intron ('di') 'AG' MAF = 0.00868 Possibly 4% in Europe. ('ag','dg') 'AA' a RARE result. ---------------------------------------------------------------------------------------------------------------- rs35856562 HMCN1 hemicentin 1 - missense Q5462R ('di','jk') 'AG' MAF = 0.00400 The 1000 Genome Project gives 4 per 1000. The change Q<>R is uncommon and the homozygous form could be significant. See perhaps: http://www.ncbi.nlm.nih.gov/sites/varvu?gene=6390&rs=33927012 ---------------------------------------------------------------------------------------------------------------- rs36017137 NR1I3 nuclear receptor subfamily 1, group I, member 3 - unknown ('tg') 'CT' MAF = 0.00457. Appears to be under 1% worldwide. ---------------------------------------------------------------------------------------------------------------- rs36053993 Intergenic - ('ai') 'CT' MAF = 0.00400. The 1000 Genome Project gives 4 per 1000. ---------------------------------------------------------------------------------------------------------------- rs41273157 ATP13A2 ATPase type 13A2 - intron ('ig') 'CT' MAF = 0.00639 The 1000 Genome Project gives 6 per 1000. ---------------------------------------------------------------------------------------------------------------- rs41285370 FOXD3 forkhead box D3 - nearGene-5 ('b') 'GT' MAF = 0.00999 An uncommon SNP. ---------------------------------------------------------------------------------------------------------------- rs41313880 LMNA lamin A/C - synonymous R119R ('gn') 'CT' MAF = 0.00365 Perhaps 5 per 1000 worldwide. ---------------------------------------------------------------------------------------------------------------- rs45467195 CYP4B1 cytochrome P450, family 4, subfamily B, polypeptide 1 - missense S322G ('cd') 'AG' MAF = 0.00594 Possibly 4% in Europe and absent elsewhere. The change S<>G is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs45574833 C4BPA complement component 4 binding protein, alpha - missense R240H ('be') 'AG' MAF = 0.00548 The 1000 Genome Project gives 5 per 1000. The change R<>H is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs45589337 DPYD dihydropyrimidine dehydrogenase - missense K259E ('ng') 'CT' MAF = 0.00502 Possibly 1% worldwide, highest in Europe. ('hu') 'CC' The change K<>E is rare and the homozygous form could certainly be significant. ---------------------------------------------------------------------------------------------------------------- rs55896821 ABCA4 ATP-binding cassette, sub-family A (ABC1), member 4 - intron ('ae') 'AG' MAF = 0.00274 The 1000 Genome Project gives 2 per 1000. ---------------------------------------------------------------------------------------------------------------- rs56021047 RPE65 retinal pigment epithelium-specific protein 65kDa - synonymous Y144Y ('kr') 'AG' MAF = 0.00137 Heterozygous form appears in 7 per 1,000 worldwide. ---------------------------------------------------------------------------------------------------------------- rs56142328 ABCA4 ATP-binding cassette, sub-family A (ABC1), member 4 - intron ('tu') 'AG' MAF = 0.00502 The 1000 genome Project gives 5 per 1000. ---------------------------------------------------------------------------------------------------------------- rs56250729 RNASEL ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent) - missense I97L ('gn') 'GT' MAF = 0.00457 Appears about 1% worldwide. The change I<>L is surprisingly uncommon, but the amino acids are very similar. ---------------------------------------------------------------------------------------------------------------- rs56357060 ABCA4 ATP-binding cassette, sub-family A (ABC1), member 4 - missense V1433I ('th') 'CT' MAF = 0.00045 Uncommon, appears 4 per 1000 worldwide. The change V<>I is common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs56367069 ATP13A2 ATPase type 13A2 - missense R294Q ('k') 'CT' MAF = 0.00776 Found in 26 per 1000 persons worldwide. ('mn') 'TT' The change R<>Q is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs58351438 FMO5 flavin containing monooxygenase 5 - missense K166E (1) ('ig') 'CT' MAF = 0.00411 Possibly 1% worldwide The change K<>E is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs60695352 LMNA lamin A/C - missense R50P (2) ('sr') 'CG' MAF = 0.00999 An uncommon SNP. The change R<>P is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs61046466 LMNA lamin A/C - missense Q6X ('c5') 'CT' MAF = 0.00999 An uncommon SNP. Possibly associated with Emery-Dreifuss muscular dystrophy. The SNP truncates the protein. ---------------------------------------------------------------------------------------------------------------- rs61748519 ABCA4 ATP-binding cassette, sub-family A (ABC1), member 4 - synonymous L2085L ('jy') 'AG' MAF = 0.00228. The 1000 Genome Project gives 2 per 1000. ---------------------------------------------------------------------------------------------------------------- rs61749440 ABCA4 ATP-binding cassette, sub-family A (ABC1), member 4 - missense T897I ('tm') 'AG' MAF = 0.00319. The 1000 Genome Project gives 3 per 1000. The change T<>I is common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs61750120 ABCA4 ATP-binding cassette, sub-family A (ABC1) - missense R1108C ('ah') 'AG' MAF = 0.00999 An uncommon SNP. The change R<>C is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs61750641 ABCA4 ATP-binding cassette, sub-family A (ABC1), member 4 - missense R2230Q (2) ('dx') 'CT' MAF = 0.00999 An uncommon SNP. The change R<>Q is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs61751392 ABCA4 ATP-binding cassette, sub-family A (ABC1), member 4 - missense L541P ('ju') 'AG' MAF = 0.00999 An uncommon SNP. The change L<>P is fairly uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs61751396 ABCA4 ATP-binding cassette, sub-family A (ABC1), member 4 - intron ('sg') 'CG' MAF = 0.00091 The 1000 Genome Project gives 1 per 1100. ---------------------------------------------------------------------------------------------------------------- rs61751408 ABCA4 ATP-binding cassette, sub-family A (ABC1), member 4 - missense L2027F ('cf') 'AG' MAF = 0.00999 An uncommon SNP. The change L<>F is common and unlikely to be significant. Gene associated with Stargardt disease. See maybe: http://omim.org/entry/601691#0004 ---------------------------------------------------------------------------------------------------------------- rs61752878 RPE65 retinal pigment epithelium-specific protein 65kDa - missense A132T ('kw') 'CT' MAF = 0.00999 Possibly 1% worldwide. The change A<>T is common and probably not significant. --------------------------------------------------------------------------------------------------------------- rs61752888 RPE65 retinal pigment epithelium-specific protein 65kDa - frameshift at 205 ('t2') 'DI' MAF = 0.00999 An uncommon SNP. ---------------------------------------------------------------------------------------------------------------- rs61753019 ABCA4 ATP-binding cassette, sub-family A (ABC1), member 4 - missense V1686M ('jk') 'CT' MAF = 0.00999 Possibly appears 1 per 1000. The change V<>M is common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs61754022 ABCA4 ATP-binding cassette, sub-family A (ABC1), member 4 - intron ('mh') 'CT' MAF = 0.00959. No population data. **1000 Genome Project MAF=0.011** ---------------------------------------------------------------------------------------------------------------- rs61754045 ABCA4 ATP-binding cassette, sub-family A (ABC1) - intron ('ah') 'CT' MAF = 0.00045. The 1000 Genome Project gives 1 per 2250. ---------------------------------------------------------------------------------------------------------------- rs61754053 ABCA4 ATP-binding cassette, sub-family A (ABC1), member 4 - intron ('er') 'AG' MAF = 0.00274. Uncommon in Europe. No proper population data. ('nc') 'AA' ---------------------------------------------------------------------------------------------------------------- rs61757781 PSEN2 presenilin 2 (Alzheimer disease 4) - missense M174V ('cc') 'AG' MAF = 0.00999 An uncommon SNP. The change M<>V is common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs62636282 CRB1 crumbs homolog 1 (Drosophila) - synonymous T364T (3) ('sr') 'CT' MAF = 0.00999 An uncommon SNP. ---------------------------------------------------------------------------------------------------------------- rs62642581 RPE65 retinal pigment epithelium-specific protein 65kDa - synonymous F16F ('ak') 'AG' MAF = 0.00999 An uncommon SNP. ---------------------------------------------------------------------------------------------------------------- rs62636287 CRB1 crumbs homolog 1 (Drosophila) - missense R657H ('sy') 'AG' MAF = 0.00959 An uncommon SNP. The change R<>H is uncommon and the homozygous from could be significant. ---------------------------------------------------------------------------------------------------------------- rs62642572 ABCA4 ATP-binding cassette, sub-family A (ABC1) - 2-codon insertion DS ('kw') 'DI' MAF = 0.00999 An uncommon insertion. No population data. ---------------------------------------------------------------------------------------------------------------- rs67376798 DPYD dihydropyrimidine dehydrogenase - missense D949V ('k') 'AT' MAF = 0.00319 Appears 8 per 1000 worldwide. The change D<>V is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- ---------------------------------------------------------------------------------------------------------------- Note: A MAF = 0.00950 indicates the frequency is probably under 0.01 A MAF = 0.00999 indicates there is no population data for this SNP