Chromosome 19
Chromosome 18 << >> Chromosome 20Back
---------------------------------------------------------------------------------------------------------------- Summary of data - 23andMe No data = 0 Rare SNPs = 172 Minor Allele Frequency >0 and <0.01 = 670 Minor Allele Frequency >=0.01 and <0.02 = 498 Minor Allele Frequency >=0.02 and <0.03 = 429 Minor Allele Frequency >=0.03 and <0.05 = 731 Minor Allele Frequency >=0.05 and <0.5 = 15701 Total of SNPs = 18201 There are also 316 i-SNPs for which there is no data ---------------------------------------------------------------------------------------------------------------- Summary of data - FTDNA No data = 0 Rare SNPs = 135 Minor Allele Frequency >0 and <0.01 = 453 Minor Allele Frequency >=0.01 and <0.02 = 429 Minor Allele Frequency >=0.02 and <0.03 = 372 Minor Allele Frequency >=0.03 and <0.05 = 597 Minor Allele Frequency >=0.05 and <0.5 = 12502 Total of common SNPs = 14488 There are also 685 unique SNPs for which there is no data ----------------------------------------------------------------------------------------------------------------
Example Reports:
---------------------------------------------------------------------------------------------------------------- ---------------------------------------------------------------------------------------------------------------- Persons:- 'an' (email: pma_851[at]hotmail[dot]com) <0.01 rs3093222 at Chr19:15857585 gave 'GT' The minor allele is 'T' with a MAF = 0.00868. rs2231943 at Chr19:46630062 gave 'CT' The minor allele is 'T' with a MAF = 0.00548. rs34462078 at Chr19:47597622 gave 'CT' The minor allele is 'T' with a MAF = 0.00594. ---------------------------------------------------------------------------------------------------------------- Person:- 'b' (email withheld) <0.01: rs11879596 at Chr19:11398377 gave 'AG' The minor allele is 'A' with a MAF = 0.00594 rs2434844 at Chr19:24253122 gave 'TT' The minor allele is 'T' with a MAF = 0.00731 rs7251093 at Chr19:33642563 gave 'AG' The minor allele is 'A' with a MAF = 0.00000 rs35303484 at Chr19:46189186 gave 'AG' The minor allele is 'G' with a MAF = 0.00091 ---------------------------------------------------------------------------------------------------------------- Person:- 'i' (email withheld) <0.01: rs34343924 at Chr19:47396791 gave 'AG' The minor allele is 'A' with a MAF = 0.00959 ---------------------------------------------------------------------------------------------------------------- Person:- 'k' (email withheld) <0.01: rs1476707 at Chr19:3561776 gave 'AG' The minor allele is 'A' with a MAF = 0.00776 rs4987202 at Chr19:12920626 gave 'CT' The minor allele is 'T' with a MAF = 0.00137 rs7251093 at Chr19:33642563 gave 'AA' The minor allele is 'A' with a MAF = 0.00000 ---------------------------------------------------------------------------------------------------------------- ----------------------------------------------------------------------------------------------------------------Submitted RS details for the <0.01 results:
rs number gene details type ---------------------------------------------------------------------------------------------------------------- ---------------------------------------------------------------------------------------------------------------- rs5926 LDLR low density lipoprotein receptor - synonymous N513N ('hu') 'CT' MAF = 0.00319 Appears about 1% worldwide. ---------------------------------------------------------------------------------------------------------------- rs16019 CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit - missense E731A ('ab') 'GT' MAF = 0.00548. Possibly 1% in Europe and absent elsewhere. The change E<>A is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs16024 CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit - missense E1018K ('so') 'CT' MAF = 0.00319. Appears 4% in Asia, 1% in Europe and absent from Africa. The change E<>K is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs16053 CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit - intron ('tu') 'CT' MAF = 0.00999 An uncommon SNP. No further data. ---------------------------------------------------------------------------------------------------------------- rs317927 EPOR erythropoietin receptor - nearGene-3 ('ar') 'AC' MAF = 0.00868 Appears 10% in Africa and less elsewhere. ---------------------------------------------------------------------------------------------------------------- rs330883 EMR1 egf-like module containing, mucin-like, hormone receptor-like 1 - intron ('or') 'AG' MAF = 0.00548 Maybe 5% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs721186 DNMT1 DNA (cytosine-5-)-methyltransferase 1 - synonymous S594S ('jh') 'CT' MAF = 0.00685 The 1000 Genome Project gives 6 per 1000. ---------------------------------------------------------------------------------------------------------------- rs769451 APOE apolipoprotein E - intron ('jh') 'GT' MAF = 0.00228 The 1000 Genome Project gives 2 per 1000. ---------------------------------------------------------------------------------------------------------------- rs851609 Intergenic - ('gr') 'AG' MAF = 0.004 Possibly 1% in Europe. ---------------------------------------------------------------------------------------------------------------- rs892054 RYR1 ryanodine receptor 1 (skeletal) - synonymous D191D ('gg') 'CT' MAF = 0.00365 About 2% worldwide, 1% in Europe and absent in Asia. ---------------------------------------------------------------------------------------------------------------- rs1005372 Intergenic - ('gg') 'CT' MAF = 0.00274. Appears about 3% in Europe and lower elsewhere. ---------------------------------------------------------------------------------------------------------------- rs1290653 PTOV1-AS1 uncharacterized LOC100506033 - ncRNA ('na') 'AG' MAF = 0.00914 Appears 8% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs1476707 C19orf29 chromosome 19 open reading frame 29 - reading frame ('k') 'AG' MAF = 0.00776 about 5% in Europe, absent in Africa & Asia. ---------------------------------------------------------------------------------------------------------------- rs1800022 FUT2 fucosyltransferase 2 (secretor status included) - missense R138C ('eb') 'CT' MAF = 0.00365 Appears 5 per 1000 worldwide. The change R<>C is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs2227346 F2RL3 coagulation factor II (thrombin) receptor-like 3 - missense F296V ('le') 'GT' MAF = 0.00685 Appears to be 1% worldwide. The change F<>V is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs2231939 ATP5SL ATP5S-like - missense H23R ('be') 'CT' MAF = 0.00180 Appears nearly 2% in Europe. ('bb') 'CC' The homozygous form is clearly uncommon. The change H<>R is fairly common, and this SNP may not be significant. ---------------------------------------------------------------------------------------------------------------- rs2231943 ATP5SL ATP5S-like - probably synonymous ('dw') 'CT' MAF = 0.00548. Appears 4% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs2288453 ZNF490 zinc finger protein 490 - UTR-5 ('a1') 'AG' MAF = 0.00365. Appears 7% in Asia and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs2287753 GYS1 glycogen synthase 1 (muscle) - ncRNA ('jy') 'GT' MAF = 0.00137 Appears 7% in Asia and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs2290645 GRAMD1A GRAM domain containing 1A - synonymous S543S ('gd') 'CT' MAF = 0.00000 Appears 3% in Asia and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs2304133 SIPA1L3 signal-induced proliferation-associated 1 like 3 - missense G1371S ('q4') 'AG' MAF = 0.00776 Appears 7% in Asia, 2% in Europe and 1% in Africa. The change G<>S is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs2307167 XRCC1 X-ray repair complementing defective repair in Chinese hamster cells 1 - missense R559Q ('cv') 'CT' MAF = 0.00400. Possibly 2% in Asia, 1% in Europe and absent from Africa. The change R<>Q is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs2434844 Intergenic - ('ng') 'CT' MAF = 0.00731. Heterozygous <6% in Europe. ('b') 'TT' The homozygous form is uncommon. ---------------------------------------------------------------------------------------------------------------- rs2545784 CYP2A6 cytochrome P450, family 2, subfamily A, polypeptide 6 - nearGene-5 ('er') 'AG' MAF = 0.00999 No population data. ---------------------------------------------------------------------------------------------------------------- rs3093217 Intergenic - ('jf') 'CT' MAF = 0.00594. Appears 14% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs3093218 CYP4F2 cytochrome P450, family 4, subfamily F, polypeptide 2 - intron ('sv') 'CT' MAF = 0.00319. The 1000 Genome Project gives 3 per 1000. ---------------------------------------------------------------------------------------------------------------- rs3093222 CYP4F2 cytochrome P450, family 4, subfamily F, polypeptide 2 - intron ('eb') 'GT' MAF = 0.00868 Poor population data. Appears low everywhere. ---------------------------------------------------------------------------------------------------------------- rs3093228 Intergenic - ('ut') 'AG' MAF = 0.00685 Maybe 3% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs3212857 KLK1 kallikrein 1 - synonymous H189H ('gg') 'AG' MAF = 0.00365. Appears about 8% in Europe, and 1% worldwide. ---------------------------------------------------------------------------------------------------------------- rs3213408 JAK3 Janus kinase 3 - synonymous L527L ('tt') 'CT' MAF = 0.00228. Appears 2% in Europe. ---------------------------------------------------------------------------------------------------------------- rs3213409 JAK3 Janus kinase 3 - missense V722I ('f0') 'CT' MAF = 0.0018. Appears nearly 2% worldwide. The change V<>I is common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs3218772 POLD1 polymerase (DNA directed), delta 1, catalytic subunit 125kDa - missense R30W ('jk') 'CT' MAF = 0.00411 Appears 1% in Europe and absent elsewhere. The change R<>W is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs3745321 NWD1 NACHT and WD repeat domain containing 1 - synonymous P1334P ('rr') 'AG' MAF = 0.00228 Appears 1% in Europe, 1% in Asia and absent from Africa. ('tu') 'AA' ---------------------------------------------------------------------------------------------------------------- rs3745484 AKT1S1 AKT1 substrate 1 (proline-rich) - UTR-3 ('sy') 'GT' MAF = 0.00548 Possibly 7% in Asia and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs3745574 ZNF559-ZNF177 ZNF559-ZNF177 readthrough - intron ('gr') 'AG' MAF = 0.00502 Possibly up to 11% in Asia and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs3745674 DNM2 dynamin 2 - missense P263L ('jy') 'CT' MAF = 0.00274 Appears 5% in Asia, 3% in Europe and 1% in Africa. The change P<>L is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs3810312 ELAVL3 ELAV (embryonic lethal, abnormal vision, Drosophila)-like 3 - nearGene-5 ('jy') 'AG' MAF = 0.00365 Appears 12% in Asia and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs3810364 CHST8 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8 - UTR-5 ('er') 'CT' MAF = 0.00959. Absent in Europe and Africa, maybe 6% in Asia. ---------------------------------------------------------------------------------------------------------------- rs3826711 CYP2B6 cytochrome P450, family 2, subfamily B, polypeptide 6 - missense P167A ('jy') 'CG' MAF = 0.00500 The 1000 Genome Project gives 5 per 1000. The change P<>A is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs3916897 ERCC2 excision repair cross-complementing rodent repair deficiency - nearGene-3 ('zn') 'GT' MAF = 0.00365. Possibly 1% worldwide. ---------------------------------------------------------------------------------------------------------------- rs4251946 PLAUR plasminogen activator, urokinase receptor - synonymous H251H ('ja') 'AG' MAF = 0.00228. Appears 4% in Europe. ---------------------------------------------------------------------------------------------------------------- rs4251950 PLAUR plasminogen activator, urokinase receptor - synonymous T265T ('mh') 'AG' MAF = 0.00914. Appears 2% worldwide. ---------------------------------------------------------------------------------------------------------------- rs4646527 CYP4F8 cytochrome P450, family 4, subfamily F, polypeptide 8 - intron ('sy') 'AC' MAF = 0.00228 Possibly 8% in Asia and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs4806132 Intergenic - ('er') 'CG' MAF = 0.00999 No population data. ---------------------------------------------------------------------------------------------------------------- rs4806790 LILRB1 leukocyte immunoglobulin-like receptor, subfamily B - nearGene-5 ('cl') 'CT' MAF = 0.00228 Appears 1% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs4807144 ATP8B3 ATPase, aminophospholipid transporter, class I, type 8B, member 3 - intron ('a') 'AG' MAF = 0.00548 Maybe 7% in Europe and much less in Africa & Asia. ---------------------------------------------------------------------------------------------------------------- rs4807529 Intergenic - ('tg') 'CT' MAF = 0.00182 Maybe 1% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs4808647 Intergenic - ('tu') 'CT' MAF = 0.00045 The 1000 Genome Project gives 1 per 2250. ---------------------------------------------------------------------------------------------------------------- rs4808820 UBA52 ubiquitin A-52 residue ribosomal protein fusion product 1 - nearGene-5 ('ss') 'AG' MAF = 0.00319 Maybe 4% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs4987068 LIG1 ligase I, DNA, ATP-dependent - missense R409H ('jn') 'CT' MAF = 0.00685. Appears about 2% worldwide. The change R<>H is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs4987202 RAD23A RAD23 homolog A (S. cerevisiae) - missense T200M ('k') 'CT' MAF = 0.00137 1-2% in Europe, maybe a little higher in Italy. The change T<>M is not usually pathological. ---------------------------------------------------------------------------------------------------------------- rs4987203 RAD23A RAD23 homolog A (S. cerevisiae) - missense R179Q ('mk') 'AG' MAF = 0.00365 Appears 2% in Europe and Asia, but absent from Africa. The change R<>Q is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs4988337 ZNF350 zinc finger protein 350 - missense V524I ('hs') 'CT' MAF = 0.00045. Uncommon, the 1000 Genome Project gives 4 per 1000. The change V<>I is common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs7247965 SIPA1L3 signal-induced proliferation-associated 1 like 3 - intron ('y') 'AC' MAF = 0.00594 maybe 7% in Europe. ---------------------------------------------------------------------------------------------------------------- rs7251093 Intergenic - ('k','eb') 'AG' MAF = 0 appears very common in Asia, and maybe 8% in Africa. Rare in Europe. ('b') 'AA' MAF = 0 very rare in Europe; and this mutation may be useful for tracking. ---------------------------------------------------------------------------------------------------------------- rs7257663 INSR insulin receptor - intron ('jj') 'AG' MAF = 0.00411 Appears 1% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs7258813 CAPNS1 calpain, small subunit 1 - UTR-3 ('ab') 'CT' MAF = 0.00045 Apears about 1% worldwide. ---------------------------------------------------------------------------------------------------------------- rs8103544 CYP4F8 cytochrome P450, family 4, subfamily F, polypeptide 8 - intron ('mh') 'AG' MAF = 0.00914 Maybe 7% in Africa, rare in Europe and Asia. An African SNP. ---------------------------------------------------------------------------------------------------------------- rs8105775 PLIN4 perilipin 4 - synonymous P1165P ('gg') 'AG' MAF = 0.00137 Possibly 1% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs8107027 RYR1 ryanodine receptor 1 (skeletal) - intron ('a') 'AA' MAF = 0.00776 Maybe 6% in Europe, very low elsewhere. ---------------------------------------------------------------------------------------------------------------- rs8107892 Intergenic - ('di') 'AG' MAF = 0.00594 Appears 2% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs8192721 Intergenic - ('gg') 'CT' MAF = 0.00999 No population details. ---------------------------------------------------------------------------------------------------------------- rs10221474 Intergenic - ('mh') 'CT' MAF = 0.00900 Maybe 3% in Europe. ---------------------------------------------------------------------------------------------------------------- rs10402083 Intergenic - ('mu') 'CT' MAF = 0.00639 Appears 7% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs10406287 Intergenic - ('nc') 'AG' MAF = 0.00822 Appears 10% in Africa, 2% in Asia and absent from Europe. ---------------------------------------------------------------------------------------------------------------- rs10414884 Intergenic - ('mj') 'CT' MAF = 0.00000 Possibly 15% in Africa, 10% in Asia and absent in Europe. ---------------------------------------------------------------------------------------------------------------- rs10417628 AMH anti-Mullerian hormone - missense A515V ('mp') 'CT' MAF = 0.00731 Frequency 3% in a large survey. The change M<>V is not usually pathological. ---------------------------------------------------------------------------------------------------------------- rs10423154 BEST2 bestrophin 2 - nearGene-3 ('na') 'GT' MAF = 0.00000 Appears 17% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs10424382 FOXA3 forkhead box A3 - intron ('jt') 'AG' MAF = 0.00548 The 1000 Genome Project gives 5 per 1000. ---------------------------------------------------------------------------------------------------------------- rs10426987 SNRPD2 small nuclear ribonucleoprotein D2 polypeptide 16.5kDa - UTR-5 ('ab') 'AG' MAF = 0.00274 Possibly 2% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs11085745 Intergenic - ('a') 'AG' MAF = 0.00457 maybe 4% in Europe. Lower elsewhere. ---------------------------------------------------------------------------------------------------------------- rs11466310 B9D2 B9 protein domain 2 - intron ('mk') 'CT' MAF = 0.00776. Appears 5% in Europe and less elsewhere. ('ja') 'TT' ---------------------------------------------------------------------------------------------------------------- rs11466318 TGFB1 transforming growth factor, beta 1 - intron ('kw') 'CT' MAF = 0.00868. Possibly 1% worldwide. ---------------------------------------------------------------------------------------------------------------- rs11559024 CKM creatine kinase, muscle - missense E83G ('lr') 'CT' MAF = 0.00685. Appears about 2% worldwide. The change E<>G is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs11666363 LPPR2 lipid phosphate phosphatase-related protein type 2 - intron ('sg') 'CT' MAF = 0.00600 The 1000 Genome Project gives 6 per 1000. ---------------------------------------------------------------------------------------------------------------- rs11668656 GIPC3 GIPC PDZ domain containing family, member 3 - UTR-3 ('p') 'CT' MAF = 0.00228 Appears to be 2-4% worldwide. ---------------------------------------------------------------------------------------------------------------- rs11669542 Intergenic - ('a') 'CT' MAF = 0.01873 Maybe 11% in Europe, very low elsewhere. ---------------------------------------------------------------------------------------------------------------- rs11670031 CA11 carbonic anhydrase XI - intron ('gg') 'AG' MAF = 0.00600 The 1000 Genome Project gives 6 per 1000. ---------------------------------------------------------------------------------------------------------------- rs11671231 LILRA5 leukocyte immunoglobulin-like receptor, subfamily A member 5 - nearGene-3 ('pa') 'CT' MAF = 0.00365 Poor population data. Appears 3 per 1000 worldwide. ---------------------------------------------------------------------------------------------------------------- rs11672335 RASAL3 RAS protein activator like 3 - intron ('bu') 'AG' MAF = 0.00000 An uncommon SNP. ---------------------------------------------------------------------------------------------------------------- rs11673485 Intergenic - ('nl') 'GT' MAF = 0.00639 Maybe 4% in Europe, and absent in Africa & Asia ---------------------------------------------------------------------------------------------------------------- rs11879596 CCDC151 coiled-coil domain containing 151 - Synonymous N243N ('b') 'AG' MAF = 0.00594 about 3% in Europe, absent in Africa & Asia. ---------------------------------------------------------------------------------------------------------------- rs12151041 PRKACA protein kinase, cAMP-dependent, catalytic, alpha - intron ('a') 'CT' MAF = 0.00594 Appears to be 1-2% in Europe. ---------------------------------------------------------------------------------------------------------------- rs12151206 GADD45GIP1 growth arrest and DNA-damage-inducible - intron ('sd') 'AC' MAF = 0.00137 Appears 1% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs12151220 CLIP3 CAP-GLY domain containing linker protein 3 - intron ('sh') 'GT' MAF = 0.00999 An uncommon SNP ---------------------------------------------------------------------------------------------------------------- rs12610629 Intergenic - ('aa') 'CT' MAF = 0.00822 Appears 4% in Asia and 1% elsewhere ---------------------------------------------------------------------------------------------------------------- rs12720355 TYK2 tyrosine kinase 2 - synonynous I651I ('je') 'AG' MAF = 0.00731. Appears about 1% worldwide. ---------------------------------------------------------------------------------------------------------------- rs12971873 Intergenic - ('a') 'AC' MAF = 0.00776 About 4% in Europe, less in Asia ---------------------------------------------------------------------------------------------------------------- rs12973352 XRCC1 X-ray repair complementing defective repair in Chinese hamster cells 1 - intron ('ut') 'AG' MAF = 0.00182 Maybe 1% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs12977613 Intergenic - ('ss') 'GT' MAF = 0.00319 No population data. 1000 Genome Project says 6 per 1000. ---------------------------------------------------------------------------------------------------------------- rs12982415 SIPA1L3 signal-induced proliferation-associated 1 like 3 - intron ('a') 'CT' MAF = 0.00914 Maybe 6% in Europe and much less in Africa & Asia. ('sh') 'TT' ---------------------------------------------------------------------------------------------------------------- rs12982976 Intergenic - ('kw') 'AG' MAF = 0.00274 Appears about 4% in Europe. ---------------------------------------------------------------------------------------------------------------- rs13306708 TGFB1 transforming growth factor, beta 1 - UTR-5 'AG' MAF = 0.00182. An uncommon SNP. ('q4') 'AA' 'RARE' ---------------------------------------------------------------------------------------------------------------- rs16982149 SULT2B1 sulfotransferase family, cytosolic, 2B, member 1 - missense L51S ('ls') 'CT' MAF = 0.00400 Appears 2% in Asia, 1% in Europe and absent from Africa. The change L<>S is common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs17001383 CCDC159 coiled-coil domain containing 159 - missense P267S ('dh') 'CT' MAF = 0.00000 An uncommon SNP. The change P<>S is fairly common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs17248882 LDLR low density lipoprotein receptor - intron ('hs') 'AG' MAF = 0.00091 Perhaps up to 5% in Europe. ---------------------------------------------------------------------------------------------------------------- rs17297777 IZUMO1 izumo sperm-egg fusion 1 - UTR-5 ('fc') 'CT' MAF = 0.00182 Appears 4% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs17705854 HAUS5 HAUS augmin-like complex, subunit 5 - intron ('a') 'AG' MAF = 0.00548 maybe 2% in Europe, less elsewhere. ---------------------------------------------------------------------------------------------------------------- rs17719289 CD22 CD22 molecule - missense S576G ('aa') 'AG' MAF = 0.00959 Appears 9% in Asia and absent elsewhere. The change S<>G is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs17706412 BEST2 bestrophin 2 - synonymous N204N ('sm') 'CT' MAF = 0.00822 Appears 1% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs17754651 ANKRD27 ankyrin repeat domain 27 (VPS9 domain) - intron ('me') 'AG' MAF = 0.00457 Maybe 3% in Europe, and absent in Africa & Asia ---------------------------------------------------------------------------------------------------------------- rs17846910 ACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit - synonymous F301F ('nd') 'AG' MAF = 0.00999 An uncommon SNP. ---------------------------------------------------------------------------------------------------------------- rs17875653 CKM creatine kinase, muscle - missense L127V ('di') 'CG' MAF = 0.00274 Appears 4 per 1000 worldwide. The change L<>V is common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs17884680 CAPNS1 calpain, small subunit 1 - nearGene-5 ('jf') 'AC' MAF = 0.00900 Appears 1% in Europe. ---------------------------------------------------------------------------------------------------------------- rs17885102 IL12RB1 interleukin 12 receptor, beta 1 - synonymous A573A ('jh') 'AG' MAF = 0.00137. The 1000 Genome Project gives 1 per 1000. ---------------------------------------------------------------------------------------------------------------- rs28365950 CALR calreticulin - UTR-5 ('a1') 'CT' MAF = 0.00776 The 1000 Genome Project gives 7 per 1000. ---------------------------------------------------------------------------------------------------------------- rs28371532 CYP4F3 cytochrome P450, family 4, subfamily F, polypeptide 3 - intron ('pa') 'CT' MAF = 0.00182 Poor data. Maybe 4% in Europe, much less elsewhere. ---------------------------------------------------------------------------------------------------------------- rs28371533 CYP4F3 cytochrome P450, family 4, subfamily F, polypeptide 3 - intron ('jt') 'CT' MAF = 0.00411 Poor data. Maybe up to 8% in Europe. ---------------------------------------------------------------------------------------------------------------- rs28371534 CYP4F3 cytochrome P450, family 4, subfamily F, polypeptide 3 - intron ('lw') 'AG' MAF = 0.00776 Appears 4% in Europe and less elsewhere. ---------------------------------------------------------------------------------------------------------------- rs28371541 CYP4F3 cytochrome P450, family 4, subfamily F, polypeptide 3 - intron ('ss') 'AG' MAF = 0.00228 Possibly 4% in Europe. ---------------------------------------------------------------------------------------------------------------- rs28384686 OAZ1 ornithine decarboxylase antizyme 1 - UTR-3 ('aa') 'CT' MAF = 0.00639 Appears 2% worldwide. ---------------------------------------------------------------------------------------------------------------- rs28399448 CYP2A6 cytochrome P450, family 2, subfamily A, polypeptide 6 - synonymous S225S ('ut') 'CT' MAF = 0.00999 No data. ---------------------------------------------------------------------------------------------------------------- rs28399656 BCAM basal cell adhesion molecule (Lutheran blood group) - missense M204K ('kw') 'AT' MAF = 0.00182 Appears about 1% worldwide, perhaps highest in Europe. The change M<>K is 'rare' and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs28738974 Intergenic - ('jf') 'AG' MAF = 0.00914 Appears 15% in Africa. ---------------------------------------------------------------------------------------------------------------- rs28738983 Intergenic - ('ut') 'AG' MAF = 0.00319 Maybe 2% in Europe ---------------------------------------------------------------------------------------------------------------- rs28936368 COMP cartilage oligomeric matrix protein - unknown ('mb') 'AG' MAF = 0.00000 openSNP suggest 1 per 150. ---------------------------------------------------------------------------------------------------------------- rs28937900 FKRP fukutin related protein - missense L276I ('sf') 'AC' MAF = 0.00999 An uncommon SNP. The change L<>I is not common and the homozygous form could be significant. Associated with Limb Girdle Muscular Dystrophy. see: http://www.ncbi.nlm.nih.gov/pubmed/16634037 ---------------------------------------------------------------------------------------------------------------- rs28937901 FKRP fukutin related protein - missense P316T ('ao') 'AC' MAF = 0.00999 An uncommon SNP. The change P<>T is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs28939695 NPHS1 nephrosis 1, congenital, Finnish type (nephrin) - missense E447K ('vs') 'CT' MAF = 0.00639. The 1000 Genome project gives 6 per 1000. The change E<>K is uncommon and the homozygous form could be significant. See perhaps: http://omim.org/entry/602716 ---------------------------------------------------------------------------------------------------------------- rs34012472 PRDX2 peroxiredoxin 2 - missense D153E (3) ('m3') 'AC' MAF = 0.00045. The 1000 Genome Project gives 1 per 2250. The change D<>E is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs34343924 DEDD2 death effector domain containing 2 - ('i') 'AG' MAF = 0.00959 Maybe 8% in Europe, less elsewhere. ---------------------------------------------------------------------------------------------------------------- rs34442879 BCKDHA branched chain keto acid dehydrogenase E1, alpha polypeptide - missense T151M ('ss) 'CT' MAF = 0.00548 Possibly 1% worldwide. The change T<>M is common, so is unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs34462078 LIPE lipase, hormone-sensitive - UTR-3 ('mj') 'CT' MAF = 0.00594. Poor data. Possibly 8% in Europe. ---------------------------------------------------------------------------------------------------------------- rs34883432 CYP2B6 cytochrome P450, family 2, subfamily B, polypeptide 6 - missense Q21L ('nk') 'AT' MAF = 0.00594 The 1000 Genome Project gives 5 per 1000. The change Q<>L is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs34933495 ETV2 ets variant 2 - nearGene-5 ('lz') 'CT' MAF = 0.00228 The 1000 Genome Project gives 2 per 1000. ---------------------------------------------------------------------------------------------------------------- rs35075083 GMIP GEM interacting protein - synonymous S441S ('cl') 'AG' MAF = 0.00319 Possibly 3% in europe and 1% worldwide. ---------------------------------------------------------------------------------------------------------------- rs35165411 ICAM4 intercellular adhesion molecule 4 (Landsteiner-Wiener blood group) - intron ('a','ss') 'CT' MAF = 0.00091 Maybe 1-2% in Europe, absent in Africa. ---------------------------------------------------------------------------------------------------------------- rs35300823 GPR32 G protein-coupled receptor 32 - synonymous L35L ('bg') 'AG' MAF = 0.00685 Appears 2% worldwide. ---------------------------------------------------------------------------------------------------------------- rs35303484 CYP2B6 cytochrome P450, family 2, subfamily B, polypeptide 6 - missense M46V ('b') 'AG' MAF = 0.00091 maybe 2-3% in Europe, absent in Africa & Asia. The change M<>V is not usually pathological. ---------------------------------------------------------------------------------------------------------------- rs35445888 TPRX1 tetra-peptide repeat homeobox 1 - intron ('a') 'AC' MAF = 0.00776 maybe 3-5% in Europe. ---------------------------------------------------------------------------------------------------------------- rs35480887 RYR1 ryanodine receptor 1 (skeletal) - synonymous P1573P ('ac') 'AG' MAF = 0.00502 Possibly 1% worldwide. ---------------------------------------------------------------------------------------------------------------- rs35773040 CYP2B6 cytochrome P450, family 2, subfamily B, polypeptide 6 - missense R140Q ('ly') 'AG' MAF = 0.00228 Appears 3 per 1000 worldwide. The change R<>Q is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs35839245 RYR1 ryanodine receptor 1 (skeletal) - intron ('mh') 'CT' MAF = 0.00548 Uncommon, but very poor population data. ('sh') 'TT' ---------------------------------------------------------------------------------------------------------------- rs35979566 CYP2B6 cytochrome P450, family 2, subfamily B, polypeptide 6 - missense I391N ('mk') 'AT' MAF = 0.00137 Appears under 1% worldwide. The change I<>N is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs45482602 CYP2B6 cytochrome P450, family 2, subfamily B, polypeptide 6 - missense S259R (3) ('sp') 'AC' MAF = 0.00000 openSNP suggest 1 per 150. The change S<>R is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs55778349 JAK3 Janus kinase 3 - missense P151R ('mj') 'CG' MAF = 0.00228 Appears about 1% worldwide. The change P<>R is uncommon and the homozygous form is considered significant. ---------------------------------------------------------------------------------------------------------------- rs58992194 LMNB2 lamin B2 - missense E41K (1) ('ct') 'CT' MAF = 0.00999 An uncommon SNP. The change E<>K is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs59796499 FUT3 fucosyltransferase 3 (Lewis blood group) - missense Q102K ('tk') 'GT' MAF = 0.00137 Possibly 4 per 1000 worldwide. The change Q<>K is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs61748438 CRX cone-rod homeobox - missense V66I ('bn') 'AG' MAF = 0.002 The 1000 Genome Project gives 2 per 1000. The change V<>I is common and unlikely to be significant. For more on gene CRX, see: http://omim.org/entry/602225#602225Variants0005 ---------------------------------------------------------------------------------------------------------------- rs61762294 RPS19 ribosomal protein S19 - intron ('a') 'CG' MAF = 0.00868 Poor population data. ---------------------------------------------------------------------------------------------------------------- rs72658861 LDLR low density lipoprotein receptor - intron ('jw') 'CT' MAF = 0.00502 uncommon, but population data is poor. ---------------------------------------------------------------------------------------------------------------- rs72658867 LDLR low density lipoprotein receptor - intron ('lr') 'AG' MAF = 0.00137 The 1000 Genome project now gives 2 per 1000. ---------------------------------------------------------------------------------------------------------------- ---------------------------------------------------------------------------------------------------------------- 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