Chromosome 4
Chromosome 3 << >> Chromosome 5Back
---------------------------------------------------------------------------------------------------------------- Summary of data - 'Chromosome 4a rs13125929 - rs4694490' No data = 0 Rare SNPs = 35 Minor Allele Frequency >0 and <0.01 = 184 Minor Allele Frequency >=0.01 and <0.02 = 299 Minor Allele Frequency >=0.02 and <0.03 = 363 Minor Allele Frequency >=0.03 and <0.05 = 707 Minor Allele Frequency >=0.05 and <0.5 = 18403 Total of SNPs = 19991 There are also 94 i-SNPs for which there is no data ---------------------------------------------------------------------------------------------------------------- Summary of data - 'Chromosome '4b rs7678207 - rs1304390' No data = 0 Rare SNPs = 125 Minor Allele Frequency >0 and <0.01 = 287 Minor Allele Frequency >=0.01 and <0.02 = 364 Minor Allele Frequency >=0.02 and <0.03 = 447 Minor Allele Frequency >=0.03 and <0.05 = 921 Minor Allele Frequency >=0.05 and <0.5 = 17847 Total of SNPs = 19991 There are also 94 i-SNPs for which there is no data ---------------------------------------------------------------------------------------------------------------- Summary of data - 'Chromosome '4c rs354843 - rs39003261' No data = 0 Rare SNPs = 22 Minor Allele Frequency >0 and <0.01 = 106 Minor Allele Frequency >=0.01 and <0.02 = 236 Minor Allele Frequency >=0.02 and <0.03 = 272 Minor Allele Frequency >=0.03 and <0.05 = 558 Minor Allele Frequency >=0.05 and <0.5 = 13542 Total of SNPs = 14736 There are also 79 i-SNPs for which there is no data ----------------------------------------------------------------------------------------------------------------
Example Reports:
---------------------------------------------------------------------------------------------------------------- ---------------------------------------------------------------------------------------------------------------- Person:- 'b' (email withheld) <0.01 rs41264699 at Chr4:6343941 gave 'AC' The minor allele is 'C' with a MAF = 0.00091 ---------------------------------------------------------------------------------------------------------------- Person:- 'k' (email withheld) <0.01 rs10022652 at Chr4:85848431 gave 'CT' The minor allele is 'C' with a MAF = 0.00091 rs10034853 at Chr4:85888262 gave 'CT' The minor allele is 'C' with a MAF = 0.00600 rs10516518 at Chr4:106454461 gave 'CT' The minor allele is 'T' with a MAF = 0.00959. rs72689236 at Chr4:185807547 gave 'CT' The minor allele is 'C' with a MAF = 0.00999 ---------------------------------------------------------------------------------------------------------------- Person:- 'i' (email withheld) <0.01 ----------------------------------------------------------------------------------------------------------------Submitted RS details for the <0.01 results:
rs number gene details type ---------------------------------------------------------------------------------------------------------------- ---------------------------------------------------------------------------------------------------------------- rs4968 ADD1 adducin 1 (alpha) - UTR-3 ('ss') 'CT' MAF = 0.00319 Possibly 1% in Europe. ---------------------------------------------------------------------------------------------------------------- rs5338 EDNRA endothelin receptor type A - UTR-3 ('gb') 'AG' MAF = 0.00274 Possibly 2% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs5528 NR3C2 nuclear receptor subfamily 3, group C, member 2 - synonymous H563H ('db') 'AG' MAF = 0.00502. Appears 1% worldwide. ---------------------------------------------------------------------------------------------------------------- rs5578 NPY1R neuropeptide Y receptor Y1 - missense K374T ('ne') 'GT' MAF = 0.00457. Appears 1% in Europe and absent elsewhere. The change K<>T is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs6054 FGB fibrinogen beta chain - missense P206L ('jr') 'CT' MAF = 0.00182 Appears 1% in Europe and absent elsewhere. The change P<>L is uncommon and the hoomozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs223469 Intergenic - ('sm') 'CT' MAF = 0.00776 Appears 2% in Europe, 1% in Africa and absent from Asia. ---------------------------------------------------------------------------------------------------------------- rs284797 ADH7 alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide - missense R140H ('f0','gn') 'CT' MAF = 0.00045. Appears 3% in Europe and less elsewhere. The change R<>H is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs292050 Intergenic - ('hu') 'GT' MAF = 0.00868. Possibly 12% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs300567 Intergenic - ('cd') 'AG' MAF = 0.00091. Possibly 1% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs570048 Intergenic - ('af') 'GT' MAF = 0.00639. Possibly 10% in Africa, 2% in Asia and absent from Europe. ---------------------------------------------------------------------------------------------------------------- rs752209 Intergenic - ('q4') 'AG' MAF = 0.00000 Appears 18% in Africa, 14% in Asia and absent from Europe. ---------------------------------------------------------------------------------------------------------------- rs966845 PDLIM5 PDZ and LIM domain 5 - missense A345T ('sm') 'AG' MAF = 0.00685 Appears 1% in Europe and absent elsewhere. The change A<>T is common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs1034400 MFSD10 major facilitator superfamily domain containing 10 - synonymous P448P ('af') 'CT' MAF = 0.00959. Appears 2% worldwide. ---------------------------------------------------------------------------------------------------------------- rs1247613 Intergenic - ('na') 'AG' MAF = 0.00731 The 1000 Genome Project gives 7 per 1000. ---------------------------------------------------------------------------------------------------------------- rs1494802 UGT2B4 UDP glucuronosyltransferase 2 family, polypeptide B4 - intron ('bt') 'CT' MAF = 0.00959. Appears 2% in Asia and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs1546249 Intergenic - ('pc') 'AC' MAF = 0.00274. Appears 2% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs1745249 Intergenic - ('na') 'AG' MAF = 0.00731. Appers 9% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs1801612 PKD2 polycystic kidney disease 2 (autosomal dominant) - missense I452V ('sy') 'AG' MAF = 0.00594 Possibly 4% in Asia and absent elsewhere. The change I<>V is common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs1821190 UGT2B4 UDP glucuronosyltransferase 2 family, polypeptide B4 - intron ('ic') 'GT' MAF = 0.00000. An uncommon SNP. ---------------------------------------------------------------------------------------------------------------- rs1838484 Intergenic - ('ss') 'CT' MAF = 0.00274. Appears 1% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs2066702 ADH1B alcohol dehydrogenase 1B (class I), beta polypeptide - missense R370C ('oi') 'AG' MAF = 0.00000. Possibly 40% in Africa and absent elsewhere. The change R<>C is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs2066857 FGG fibrinogen gamma chain - intron ('jn') 'CT' MAF = 0.00182. Appears 1% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs2070020 FGA fibrinogen alpha chain - nearGene-3 ('f0') 'AC' MAF = 0.00091. Possibly 5% in Europe and less elsewhere. ---------------------------------------------------------------------------------------------------------------- rs2126115 COX18 COX18 cytochrome c oxidase assembly homolog (S. cerevisiae) - intron ('gh') 'GT' MAF = 0.00950 The 1000 Genome project gives around 1%. ---------------------------------------------------------------------------------------------------------------- rs2129569 Intergenic - ('mb') 'AG' MAF = 0.00868. The 1000 Genome Project gives 8 per 1000. ---------------------------------------------------------------------------------------------------------------- rs2187692 WHSC1 Wolf-Hirschhorn syndrome candidate 1 -UTR-3 ('cl') 'AG' MAF = 0.00594. Appears 3% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs2052159 BOD1L1 biorientation of chromosomes in cell division 1-like - intron ('ti') 'AG' MAF = 0.00776. Appears 13% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs2205338 Intergenic - ('aa') 'AG' MAF = 0.00000 Possibly 25% in Asia, 15% in Africa and absent from Europe. ---------------------------------------------------------------------------------------------------------------- rs2227434 FGB fibrinogen beta chain - missense P100S (1) ('mq') 'CT' MAF = 0.00228 The 1000 Genome Project gives 2 per 1000. The change P<>S is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs2688245 ACOX3 acyl-CoA oxidase 3, pristanoyl - intron ('ph') 'CT' MAF = 0.00685 Appears 2% in Africa, 1% in Europe and absent from Asia. ---------------------------------------------------------------------------------------------------------------- rs3113676 Intergenic - ('er') 'CT' MAF = 0.00365 Possibly 1% worldwide. ---------------------------------------------------------------------------------------------------------------- rs3219193 ABCG2 ATP-binding cassette, sub-family G (WHITE), member 2 - intron ('dh') 'CT' MAF = 0.00137. Appears 2% in Asia, and 1% in Europe and Africa. ---------------------------------------------------------------------------------------------------------------- rs3733500 RELL1 RELT-like 1 - UTR-3 ('sy') 'AG' MAF = 0.00594 Possibly 4% in Asia and less elsewhere. ---------------------------------------------------------------------------------------------------------------- rs4073315 MAML3 mastermind-like 3 (Drosophila) - intron ('vk') 'CT' MAF = 0.00900. The 1000 Genome Project gives 9 per 1000. ---------------------------------------------------------------------------------------------------------------- rs4253316 KLKB1 kallikrein B, plasma (Fletcher factor) 1 - missense Q442P (2) ('j7') 'AC' MAF = 0.00274 Appears 2% in Europe. The change Q<>P is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs4463131 UGT2B11 UDP glucuronosyltransferase 2 family, polypeptide B11 - nearGene-5 ('rf') 'AG' MAF = 0.00731 Appears 4% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs4585329 UGT8 UDP glycosyltransferase 8 - intron ('kr') 'CT' MAF = 0.00365 Uncommon, 1% in Europe, absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs4648039 NFKB1 nuclear factor of kappa light polypeptide gene enhancer - synonymous Y350Y ('za') 'CT' MAF = 0.00822 Possibly 5% in Europe and less elsewhere. ---------------------------------------------------------------------------------------------------------------- rs4648143 NFKB1 nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 - UTR-3 ('di') 'AG' MAF = 0.00502 Appears up to 3% in Italy, less elsewhere. ---------------------------------------------------------------------------------------------------------------- rs4689037 MRFAP1L1 Morf4 family associated protein 1-like 1 - UTR-3 ('ph') 'AC' MAF = 0.00914 Appears 8% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs4833069 ARAP2 ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 - missense R1523Q (2) ('ac') 'CT' MAF = 0.00594 Appears 3% in Europe, 2% in Asia and absent from Africa. The change R<>Q is uncommon and the homozygous form could be significant. ('nn') 'CC' ---------------------------------------------------------------------------------------------------------------- rs5743610 TLR1 toll-like receptor 1 - synonymous H38H ('eb') 'AG' MAF = 0.00959 Maybe 2% in Europe and less elsewhere. ('n1') 'AA' ---------------------------------------------------------------------------------------------------------------- rs5743821 TLR6 toll-like receptor 6 - synonymous T756T ('nk') 'AC' MAF = 0.00137 The 1000 Genome Project gives 1 per 1000. ---------------------------------------------------------------------------------------------------------------- rs6413413 ADH1B alcohol dehydrogenase 1B (class I), beta polypeptide - missense T60S ('eb') 'AT' MAF = 0.00868 Appears 5 per 1000 worldwide. Homozygous may be significant. The change T<>S is uncommon, but the amino acids are similar. ---------------------------------------------------------------------------------------------------------------- rs6413443 ABCG2 ATP-binding cassette, sub-family G (WHITE) - intron ('nh') 'AG' MAF = 0.00319. Appears 1% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs6449181 Intergenic - ('jn') 'CT' MAF = 0.00914 Appears 1% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs6816371 Intergenic - ('wh') 'AC' MAF = 0.00639 The 1000 Genome Project gives 6 per 1000. ---------------------------------------------------------------------------------------------------------------- rs6819882 Intergenic - ('hu') 'CT' MAF = 0.00045 Uncommon. The 1000 Genome Project gives less than 1 per 1000. ---------------------------------------------------------------------------------------------------------------- rs6826683 LDB2 LIM domain binding 2 - intron ('mj') 'CT' MAF = 0.00959 Appears 7% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs6843542 ABCG2 ATP-binding cassette, sub-family G (WHITE), member 2 - intron ('dc') 'CT' MAF = 0.00731 Appears 4% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs6851503 GABRA4 gamma-aminobutyric acid (GABA) A receptor, alpha 4 - intron ('nj') 'AG' MAF = 0.00959 Appears 11% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs6852474 Intergenic - ('au') 'AG' MAF = 0.00959 Appears 12% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs7659186 LIMCH1 LIM and calponin homology domains 1 - intron ('ch') 'CT' MAF = 0.00914 Possibly 9% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs7660248 UGT2B11 UDP glucuronosyltransferase 2 family, polypeptide B11 - intron ('nh') 'GT' MAF = 0.00045 An uncommon SNP. ---------------------------------------------------------------------------------------------------------------- rs7673381 Intergenic - ('ct') 'CT' MAF = 0.00639 Appears 8% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs7688011 Intergenic - ('nt') 'AG' MAF = 0.00868 The 1000 Genome Project gives about 1%. ---------------------------------------------------------------------------------------------------------------- rs8192098 MGST2 microsomal glutathione S-transferase 2 - unknown ('ly') 'CT' MAF = 0.00274 Appears 4 per 1000 worldwide. ---------------------------------------------------------------------------------------------------------------- rs10000600 Intergenic - ('rd') 'CT' MAF = 0.00731 Appears 13% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs10010434 FAM193A family with sequence similarity 193, member A - missense R923Q ('na') 'AG' MAF = 0.00319 Appears 1% worldwide. The change R<>Q is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs10022652 WDFY3 WD repeat and FYVE domain containing 3 - intron ('k') 'CT' MAF = 0.00091 Appears 1 per 1000 worldwide ---------------------------------------------------------------------------------------------------------------- rs10034853 WDFY3 WD repeat and FYVE domain containing 3 - intron ('k') 'CT' MAF = 0.00600 Maybe 1% in Southern Europe. ---------------------------------------------------------------------------------------------------------------- rs10007404 GBA3 glucosidase, beta, acid 3 (cytosolic) - intron ('za') 'AG' MAF = 0.00000 Found 40% in Africa and absent elsewhere. 'AA' Appears in homozygous form about 12% in Africa. ---------------------------------------------------------------------------------------------------------------- rs10018395 Intergenic - ('kd') 'AG' MAF = 0.00959 Appears 9% in Africa, 1% in Europe and absent from Asia. ---------------------------------------------------------------------------------------------------------------- rs10025137 Intergenic - ('cb') 'AG' MAF = 0.00274 Appears 1% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs10034705 CXXC4 CXXC finger protein 4 - intron ('ch') 'AC' MAF = 0.00045 The 1000 Genome Project gives 4 per 1000. ---------------------------------------------------------------------------------------------------------------- rs10446841 PDLIM3 PDZ and LIM domain 3 - intron ('ly') 'AG' MAF = 0.00914 Appears 8% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs10516518 Intergenic - ('k') 'CT' MAF = 0.00959. Up to 9% in Europe and Asia. Possibly absent in Africa ('ig') 'TT' ---------------------------------------------------------------------------------------------------------------- rs10517695 C4orf45 chromosome 4 open reading frame 45 - missense R134H ('mc') 'CT' MAF = 0.00822. Appears 2% in Europe and Asia, 1% in Africa. The change R<>H is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs10938345 Intergenic - ('sg') 'CT' MAF = 0.00914 Appears under 1% in Europe & Africa and absent in Asia. ---------------------------------------------------------------------------------------------------------------- rs11249470 SULT1E1 sulfotransferase family 1E, estrogen-preferring, member 1 - intron ('kw') 'AG' MAF = 0.00411. Appears about 3% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs11466650 TLR10 toll-like receptor 10 - missense L167P ('mu') 'AG' MAF = 0.00045. Appears 1% in Euroope and absent elsewhere. The change L<>P is fairly common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs11568849 EGF epidermal growth factor - missense S16R ('tu') 'AC' MAF = 0.00639 Appears 8% in Asia and absent elsewhere. The chagne S<>R is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs11569033 EGF epidermal growth factor - intron ('nh') 'AG' MAF = 0.00731 Appears 5% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs11569705 SULT1E1 sulfotransferase family 1E, estrogen-preferring - missense D22Y ('hs') 'AC' MAF = 0.00400. Possibly 2% in Asia, 1% in Europe and absent from Africa. The change D<>Y is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs11573768 SULT1E1 sulfotransferase family 1E, estrogen-preferring, member 1 - intron ('lz') 'GT' MAF = 0.00045. Appears 1% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs11573780 SULT1E1 sulfotransferase family 1E, estrogen-preferring, member 1 - intron ('jn') 'CT' MAF = 0.00685. Appears 8% in Europe, 1% in Africa and absent from Asia. ---------------------------------------------------------------------------------------------------------------- rs11724027 ABLIM2 actin binding LIM protein family, member 2 - intron ('gb') 'CT' MAF = 0.00594 Possibly 6% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs11729424 Intergenic - ('ss') 'CT' MAF = 0.00365 Possibly 1% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs11734905 Intergenic - ('pc') 'CT' MAF = 0.00365 Appears 1% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs11931039 FRYL FRY-like - intron ('mb') 'CT' MAF = 0.00000 An uncommon SNP. ---------------------------------------------------------------------------------------------------------------- rs11932381 Intergenic - ('j6') 'CT' MAF = 0.00000 Appears 24% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs11934221 Intergenic - ('sg') 'AC' MAF = 0.00365 Appears 6% in Africa, 1% in Europe and absent from Africa. ---------------------------------------------------------------------------------------------------------------- rs11936089 LCORL ligand dependent nuclear receptor corepressor-like - intron ('ss') 'CT' MAF = 0.00000 Appears rare in Europe & Asia. Possibly 3% in Africa. ('ba') 'TT' ---------------------------------------------------------------------------------------------------------------- rs11939608 HMGB2 high mobility group box 2 - intron ('ly') 'CT' MAF = 0.00639 Possibly 4% in Europe and less elsewhere. ---------------------------------------------------------------------------------------------------------------- rs11943726 Intergenic - ('dc') 'CT' MAF = 0.00914 Appears 8% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs11945964 Intergenic - ('cm') 'CT' MAF = 0.00822 Appears about 10% in Africa and much less elsewhere. ---------------------------------------------------------------------------------------------------------------- rs12499161 UBE2D3 ubiquitin-conjugating enzyme E2D 3 - UTR-3 ('mr') 'AT' MAF = 0.00999 openSNP gives about 1%. ---------------------------------------------------------------------------------------------------------------- rs12500958 Integenic - ('gn') 'AC' MAF = 0.00091 Appears 1% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs12504387 LOC100507053 uncharacterized LOC100507053 - intron ('ic') 'GT' MAF = 0.00000 An uncommon SNP. ---------------------------------------------------------------------------------------------------------------- rs12505811 HERC5 HECT and RLD domain containing E3 ubiquitin protein ligase 5 - intron ('ut') 'AG' MAF = 0.00274 Appears 1% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs12508626 PTPN13 protein tyrosine phosphatase, non-receptor type 13 - nearGene-5 ('pc') 'AC' MAF = 0.00731 Possibly 2% worldwide. ---------------------------------------------------------------------------------------------------------------- rs12511417 ACOX3 acyl-CoA oxidase 3, pristanoyl - intron ('hs') 'CT' MAF = 0.00731 Appears 2% in Europe and Asia. ---------------------------------------------------------------------------------------------------------------- rs12640820 SLC9B2 solute carrier family 9, subfamily B - intron ('rz') 'AG' MAF = 0.00959 Possibly 1% in Europe. ---------------------------------------------------------------------------------------------------------------- rs13118502 GALNTL6 UDP-N-acetyl-alpha-D-galactosamine:polypeptide - intron ('or') 'CT' MAF = 0.00594 The 1000 Genome Project gives 5 per 1000. ---------------------------------------------------------------------------------------------------------------- rs13119853 UGT2A2 UDP glucuronosyltransferase 2 family, polypeptide A2 - intron ('jd') 'AC' MAF = 0.00457 Appears 1% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs13132499 TEC tec protein tyrosine kinase - intron ('sk') 'CT' MAF = 0.00776 Possibly 6% in Europe and absent elsewhere. ('rf') 'TT' ---------------------------------------------------------------------------------------------------------------- rs13132688 ADH5 alcohol dehydrogenase 5 (class III), chi polypeptide - nearGene-5 ('gd') 'AG' MAF = 0.00411 Appears 2% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs13142085 VSSA KIAA1530 - intron ('di') 'CT' MAF = 0.00457 Appears 7% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs16837598 EVC Ellis van Creveld syndrome - missense A114V ('ls') 'CT' MAF = 0.00400 Possibly 1% in Europe, less in Asia and very high in Africa. The change A<>V is common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs16845380 UTP3 UTP3, small subunit (SSU) processome component, homolog - nearGene-5 ('dm') 'CT' MAF = 0.00274 The 1000 Genome Project gives 2 per 1000. ---------------------------------------------------------------------------------------------------------------- rs16870854 KCNIP4 Kv channel interacting protein 4 - intron ('eb') 'CT' MAF = 0.00685 Low in Europe, very much higher elsewhere. ('q4') 'TT' ---------------------------------------------------------------------------------------------------------------- rs17022094 BMPR1B bone morphogenetic protein receptor, type IB - intron ('ao') 'CT' MAF = 0.00914 Appears 10% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs17037047 FAM198B family with sequence similarity 198, member B - UTR-3 ('cd') 'AC' MAF = 0.00822 Appears 9% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs17044034 MARCH1 membrane-associated ring finger (C3HC4) 1 - intron ('je') 'CT' MAF = 0.00914 Appears 11% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs17314642 PDLIM5 PDZ and LIM domain 5 - intron ('mb') 'AG' MAF = 0.00685 Possibly 8% in Europe and less elsewhere. ---------------------------------------------------------------------------------------------------------------- rs17322140 ELF2 E74-like factor 2 (ets domain transcription factor) - missense P64L ('as') 'AG' MAF = 0.00500 Appears 1% in Europe and Asia, but absent from Africa. The change P<>L is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs17368018 WDFY3 WD repeat and FYVE domain containing 3 - missense I3032V ('be') 'CT' MAF = 0.00274 Appears 1% in Europe and absent elsewhere. The change I<>V is common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs17393302 MFSD8 major facilitator superfamily domain containing 8 - intron ('mh') 'CT' MAF = 0.00502 Up to 7% in Europe and lower elsewhere. ---------------------------------------------------------------------------------------------------------------- rs17427440 Intergenic - ('ly') 'GT' MAF = 0.00548 Possibly 6% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs17473279 Intergenic - ('tu') 'AG' MAF = 0.00822 The 1000 Genome Project gives 8 per 1000. ---------------------------------------------------------------------------------------------------------------- rs17488750 LDB2 LIM domain binding 2 - intron ('cb') 'CT' MAF = 0.00868 Appears 7% in Europe and less elsewhere. ---------------------------------------------------------------------------------------------------------------- rs17532890 FGF5 fibroblast growth factor 5 - UTR-3 ('za') 'CT' MAF = 0.00959 Possibly 3% in Europe and absent in Asia & Africa. ---------------------------------------------------------------------------------------------------------------- rs17587861 DCLK2 doublecortin-like kinase 2 - intron ('cv') 'CT' MAF = 0.00959 Appears 5% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs17597712 SPOCK3 sparc/osteonectin, cwcv and kazal-like domains proteoglycan - UTR-3 ('gg') 'CT' MAF = 0.00868 Possibly 8% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs17728127 RNF212 ring finger protein 212 - missense V263I 'CT' MAF = 0.00914 Appears 1-4% in Europe and Asia, and absent in Africa. The change V<>I is common and unlikel to be significant. ---------------------------------------------------------------------------------------------------------------- rs17866002 Intergenic - ('ao') 'GT' MAF = 0.00868 Appears 8% in Africa, 1% in Europe and absent from Asia. ---------------------------------------------------------------------------------------------------------------- rs17880362 SOD3 superoxide dismutase 3, extracellular - intron ('th') 'CT' MAF = 0.00685 Appears 1% in Europe and less elsewhere. ---------------------------------------------------------------------------------------------------------------- rs17881656 FGFR3 fibroblast growth factor receptor 3 - missense F384L ('pi') 'CT' MAF = 0.00182 Possibly 1% in Europe. The change F<>L is common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs17882807 SOD3 superoxide dismutase 3, extracellular - intron ('lr') 'GT' MAF = 0.00600 The 1000 genome Project gives 6 per 1000. ---------------------------------------------------------------------------------------------------------------- rs28364285 ADH1A alcohol dehydrogenase 1A (class I), alpha polypeptide - nearGene-5 ('mr') 'AG' MAF = 0.00822. The 1000 Genome Project gives about 1%. ---------------------------------------------------------------------------------------------------------------- rs28364331 ADH1A alcohol dehydrogenase 1A (class I), alpha polypeptide - intron ('rf') 'AG' MAF = 0.00502. Possibly 2% in Europe. ---------------------------------------------------------------------------------------------------------------- rs28482344 AFP alpha-fetoprotein - synonymous S286S ('gg') 'CT' MAF = 0.00776 Possibly 2% worldwide. ---------------------------------------------------------------------------------------------------------------- rs28913904 ADH1B alcohol dehydrogenase 1B (class I), beta polypeptide - nearGene-5 ('kd') 'AG' MAF = 0.00822. The 1000 Genome Project gives 8 per 1000. ---------------------------------------------------------------------------------------------------------------- rs28934598 LOC100506564 - unknown ('c5') 'CT' MAF = 0.00999 An uncommon SNP. ---------------------------------------------------------------------------------------------------------------- rs34278822 Intergenic - ('si') 'AC' MAF = 0.00776 Possibly 3% in Europe. ---------------------------------------------------------------------------------------------------------------- rs34725769 Intergenic - ('zl') 'CT' MAF = 0.00999 An uncommon SNP. ---------------------------------------------------------------------------------------------------------------- rs34783571 ABCG2 ATP-binding cassette, sub-family G (WHITE), member 2 - missense D620N ('mh') 'CT' MAF = 0.00228. Maybe 5 per 1000 worldwide. The change D<>N is fairly common and not likely to be harmful. ---------------------------------------------------------------------------------------------------------------- rs35001620 SNCA synuclein, alpha (non A4 component of amyloid precursor) - intron ('rz') 'AG' MAF = 0.00274. Rare, except for 10% in Africa. ---------------------------------------------------------------------------------------------------------------- rs35031397 WFS1 Wolfram syndrome 1 (wolframin) - missense L432V ('cd') 'CG' MAF = 0.00319 Appears 7 per 1000 worldwide. The change L<>V is uncommon, but the amino acids are similar. ?Any significance. ---------------------------------------------------------------------------------------------------------------- rs35795399 ART3 ADP-ribosyltransferase 3 - intron ('cm') 'CT' MAF = 0.00548 Possibly 1% in Europe and Africa. ---------------------------------------------------------------------------------------------------------------- rs36207100 ADD1 adducin 1 (alpha) - intron ('eb') 'CT' MAF = 0.00685 No population data. ---------------------------------------------------------------------------------------------------------------- rs41264699 WFS1 Wolfram syndrome 1 (wolframin) - missense K193Q ('b') 'AC' MAF = 0.00091 Found 6 per 1000 worldwide. The change K<>Q is very uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs55814513 WFS1 Wolfram syndrome 1 (wolframin) - missense A559T ('pi') 'AG' MAF = 0.00045 The 1000 Genome Project gives 1 per 2250. The change A<>T is common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs56002719 WFS1 Wolfram syndrome 1 (wolframin) - missense E776V ('br') 'AT' MAF = 0.00300 The 1000 Genome Project gives 3 per 1000. The change E<>V is rare and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs62272670 DOK7 docking protein 7 - missense S45L ('ev') 'CT' MAF = 0.00502 The 1000 Genome Project gives 5 per 1000. The change S<>L is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs62295357 PDE6B phosphodiesterase 6B, cGMP-specific, rod, beta - missense Y219H ('rz') 'CT' MAF = 0.00182 About 1% worldwide. The change Y<>H is common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs66785830 ANK2 ankyrin 2, neuronal - missense V1540D (2) ('ml') 'AT' MAF = 0.00300 openSNP suggest 1%. The change V<>D is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs72544141 ANK2 ankyrin 2, neuronal - missense E1449G ('fc') 'AG' MAF = 0.00300 The 1000 Genome Porject gives 3 per 1000. The change E<>G is uncommon and the homozygous form could be significant. Associated with 'long QT syndrome'. See: http://omim.org/entry/106410 ---------------------------------------------------------------------------------------------------------------- rs72550820 KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog - intron ('cd') 'AG' MAF = 0.00594 Possibly 7% in Europe and much lower elsewhere. ---------------------------------------------------------------------------------------------------------------- rs72689236 No details ('k') 'CT' MAF = 0.00999 ---------------------------------------------------------------------------------------------------------------- ----------------------------------------------------------------------------------------------------------------