Chromosome 8
Chromosome 7 << >> Chromosome 9Back
---------------------------------------------------------------------------------------------------------------- Summary of data - 'Chromosome 8a rs11780869 - rs6472357' No data = 0 Rare SNPs = 93 Minor Allele Frequency >0 and <0.01 = 341 Minor Allele Frequency >=0.01 and <0.02 = 446 Minor Allele Frequency >=0.02 and <0.03 = 583 Minor Allele Frequency >=0.03 and <0.05 = 1042 Minor Allele Frequency >=0.05 and <0.5 = 22489 Total of SNPs = 24994 There are also 103 i-SNPs for which there is no data ---------------------------------------------------------------------------------------------------------------- Summary of data - 'Chromosome '8b rs10156241 - rs6599566' No data = 0 Rare SNPs = 46 Minor Allele Frequency >0 and <0.01 = 234 Minor Allele Frequency >=0.01 and <0.02 = 371 Minor Allele Frequency >=0.02 and <0.03 = 484 Minor Allele Frequency >=0.03 and <0.05 = 1004 Minor Allele Frequency >=0.05 and <0.5 = 21845 Total of SNPs = 23984 There are also 112 i-SNPs for which there is no data ----------------------------------------------------------------------------------------------------------------
Example Reports:
---------------------------------------------------------------------------------------------------------------- ---------------------------------------------------------------------------------------------------------------- Person:- 'b' (email withheld) <0.01: rs35144699 at Chr8:12225648 gave 'AT' The minor allele is 'T' with a MAF = 0.00999 rs2338696 at Chr8:90399970 gave 'CT' The minor allele is 'T' with a MAF = 0.00999 rs28472843 at Chr8:103124120 gave 'CG' The minor allele is 'G' with a MAF = 0.00000 Person:- 'i' (email withheld) <0.01: rs7462672 at Chr8:11935618 gave 'CC' The minor allele is 'C' with a MAF = 0.00999 rs35144699 at Chr8:12225648 gave 'TT' The minor allele is 'T' with a MAF = 0.00999 rs56902012 at Chr8:24828217 gave 'AG' The minor allele is 'A' with a MAF = 0.00999 rs1799931 at Chr8:18302650 gave 'AG' The minor allele is 'A' with a MAF = 0.00900 rs11784677 at Chr8:117893093 gave 'CT' The minor allele is 'T' with a MAF = 0.00685 rs2069548 at Chr8:133968757 gave 'AG' The minor allele is 'A' with a MAF = 0.00228 Person:- 'k' (email withheld) <0.01: rs17747688 at Chr8:1234724 gave 'CT' The minor allele is 'T' with a MAF = 0.00776 rs35144699 at Chr8:12225648 gave 'AT' The minor allele is 'T' with a MAF = 0.00999 rs951110 at Chr8:60797111 gave 'AT' The minor allele is 'T' with a MAF = 0.00000 rs11784677 at Chr8:117893093 gave 'CT' The minor allele is 'T' with a MAF = 0.00685 ---------------------------------------------------------------------------------------------------------------- ----------------------------------------------------------------------------------------------------------------Submitted RS details for the <0.01 results:
rs number gene details type ---------------------------------------------------------------------------------------------------------------- ---------------------------------------------------------------------------------------------------------------- rs268 LPL lipoprotein lipase - missense N318S ('bb') 'AG' MAF = 0.00400 Possibly 1-2% in europe and absent elsewhere. The change N<>S is fairly common and is unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs1945 CRISPLD1 cysteine-rich secretory protein LCCL domain containing 1 - missense A286S ('nh') 'GT' MAF = 0.00411 Possibly 1% worldwide. The change A<>S is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs204781 IMPA1 inositol(myo)-1(or 4)-monophosphatase 1 - missense I168V ('jj') 'CT' MAF = 0.00457. Appears 6% in Europe and absent elsewhere. The change I<>V is common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs204782 IMPA1 inositol(myo)-1(or 4)-monophosphatase 1 - intron ('jj') 'CT' MAF = 0.00457. Appears 6% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs951110 Intergenic - ('k','ap') 'AT' MAF = 0.0 Poor data. Maybe 2% in Europe and higher in Africa. ('eb') ---------------------------------------------------------------------------------------------------------------- rs1126058 HGSNAT heparan-alpha-glucosaminide N-acetyltransferase - synonymous Y583Y ('fc') 'CT' MAF = 0.00457. Appears 7% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs1395801 Intergenic - ('en') 'GT' MAF = 0.00776 Appears 9% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs1455055 Intergenic - ('ti') 'CT' MAF = 0.00914 Appears 22% in Asia, 17% in Africa and absent from Europe. ---------------------------------------------------------------------------------------------------------------- rs1496753 Intergenic - ('eb') 'AG' MAF = 0.00914 Appears about 9% in Europe. ---------------------------------------------------------------------------------------------------------------- rs1789961 EMC2 tetratricopeptide repeat domain 35 - intron ('je') 'AG' MAF = 0.00685 The 1000 Genome Project gives 6 per 1000. ---------------------------------------------------------------------------------------------------------------- rs1799931 NAT2 N-acetyltransferase 2 (arylamine N-acetyltransferase) - missense G286E ('i','sm') 'AG' MAF = 0.00900 maybe 3% in Europe and lower elsewhere. The change G<>E is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs1965053 Intergenic - ('lw') 'CT' MAF = 0.00137. Appears 2% in Asia and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs2020921 PLAT plasminogen activator, tissue - missense R118W ('eb') 'AG' MAF = 0.00914 Possibly up to 11% in Europe, and much less elsewhere The change R<>W is rare, and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs2069548 TG thyroglobulin - missense G653D ('i','ss') 'AG' MAF = 0.00228 Maybe 3% in Europe and less elsewhere. The change G<>D is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs2228063 CA2 carbonic anhydrase II - missense N252D ('na') 'AG' MAF = 0.00000 Appears 22% in Africa and absent elsewhere. The change N<>D is fairly common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs2233319 NDRG1 N-myc downstream regulated 1 - missense M67V ('db') 'CT' MAF = 0.00776. Appears 5% in Africa and absent elsewhere. The change M<>V is common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs2305606 COL14A1 collagen, type XIV, alpha 1 - missense P855L ('rz') 'CT' MAF = 0.00274 Possibly 3% in Europe. The change P<>L is fairly uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs2338696 Unknown - ('b') 'CT' MAF = 0.00999 No population data. ---------------------------------------------------------------------------------------------------------------- rs2513812 MATN2 matrilin 2 - intron ('bb') 'GT' MAF = 0.00776 Possibly 6% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs2653414 FGL1 fibrinogen-like 1 - missense W256L ('ly') 'AC' MAF = 0.00822 Possibly 8% in Europe and less elsewhere. The change W<>L is uncommon, however the SNP appears too common to be significant. ---------------------------------------------------------------------------------------------------------------- rs2680432 Intergenic - ('je') 'AG' MAF = 0.00999 An 'rare' SNP. No further data. ---------------------------------------------------------------------------------------------------------------- rs2915665 FGFR1 fibroblast growth factor receptor 1 - unknown ('er') 'AG' MAF = 0.00548. Appears 3% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs2978277 GTF2E2 general transcription factor IIE, polypeptide 2, beta 34kDa - missense K183R ('ss') 'CT' MAF = 0.00182. Appears about 2% in Europe. The change K<>R is rare and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs3136797 POLB polymerase (DNA directed), beta - missense P242R ('eb') 'CG' MAF = 0.00822 About 2% in Europe and absent elsewhere. The change P<>R is rare and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs3730287 ADRA1A adrenergic, alpha-1A-, receptor - missense G247R (1) ('bt') 'CT' MAF = 0.00457. The 1000 Genome Project gives 4 per 1000. The change G<>R is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs3817680 ADCK5 aarF domain containing kinase 5 - UTR-3 ('mj') 'AC' MAF = 0.00411. Appears 7% in Asia and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs3850743 PCM1 pericentriolar material 1 - intron ('hu') 'AG' MAF = 0.00776. Possibly 11% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs4149238 EPHX2 epoxide hydrolase 2, cytoplasmic - intron ('lb') 'CT' MAF = 0.00999 openSNP suggest 1%. ---------------------------------------------------------------------------------------------------------------- rs4282609 Intergenic - ('za') 'AC' MAF = 0.00776 Appears 6% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs4443628 ESRP1 epithelial splicing regulatory protein 1 - intron ('j6') 'CT' MAF = 0.00914 Appears 5% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs4463415 Intergenic - ('ao') 'CT' MAF = 0.00868 Appears 8% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs4592050 Intergenic - ('ut') 'AG' MAF = 0.00274 Maybe 2% in Europe. ('sj') 'AA' ---------------------------------------------------------------------------------------------------------------- rs4647910 FGFR1 fibroblast growth factor receptor 1 - intron ('dm') 'AG' MAF = 0.00776. Appears 2% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs4736149 TRAPPC9 trafficking protein particle complex 9 - intron ('dd') 'AG' MAF = 0.00365 The 1000 Genome Project gives 3 per 1000. ---------------------------------------------------------------------------------------------------------------- rs4737570 Intergenic - ('kw') 'AG' MAF = 0.00914 Appears 10% in Europe and absent elsewhere. ('ja') 'AA' ---------------------------------------------------------------------------------------------------------------- rs4986782 NAT1 N-acetyltransferase 1 (arylamine N-acetyltransferase) - missense R187Q ('gn') 'AG' MAF = 0.00639 Appears 2% in Europe and absent elsewhere. ('rf') 'AA' The change R<>Q is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs4998896 CYP11B1 cytochrome P450, family 11, subfamily B, polypeptide 1 - missense R404H ('jk') 'CT' MAF = 0.00000 Appears 2% in Asia and absent elsewhere. The change R<>H is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs5030839 NAT1 N-acetyltransferase 1 (arylamine N-acetyltransferase) - missense R187X ('na') 'CT' MAF = 0.00274 The 1000 Genome Project gives 2 per 1000. The protein is truncated and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs6472812 LY96 lymphocyte antigen 96 - intron ('ss') 'AG' MAF = 0.00914 About 5% worldwide. ---------------------------------------------------------------------------------------------------------------- rs6468438 Intergenic - ('ch') 'AG' MAF = 0.00137 Appears 2% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs6472150 CYP7B1 cytochrome P450, family 7, subfamily B, polypeptide 1 - intron ('nj') 'AC' MAF = 0.00228 Possibly 1% in Europe and less elsewhere. ---------------------------------------------------------------------------------------------------------------- rs6558197 Intergenic - ('sp') 'CT' MAF = 0.00045 The 1000 Genome Project gives 1 per 2250. ---------------------------------------------------------------------------------------------------------------- rs6982011 Intergenic - ('rz') 'AG' MAF = 0.00800 Possibly 22% in Asia, 10% in Africa and 1% in Europe. ('ly','wh') 'AA' ---------------------------------------------------------------------------------------------------------------- rs6989090 CSMD1 CUB and Sushi multiple domains 1 - intron ('na') 'CT' MAF = 0.00776 Appears 9% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs7462672 Intergenic - ('mh') 'CT' MAF = 0.00999 No population data. ('i') 'CC' ---------------------------------------------------------------------------------------------------------------- rs7817990 Intergenic - ('eb') 'GT' MAF = 0.00914 Appears 5% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs7819379 Intergenic - ('gd') 'AG' MAF = 0.00950 An uncommon SNP. ---------------------------------------------------------------------------------------------------------------- rs7821703 Intergenic - ('rz') 'AG' MAF = 0.00137 Possibly 1% in Europe and up to 10% in Africa. ---------------------------------------------------------------------------------------------------------------- rs7824550 Intergenic - ('wh') 'CT' MAF = 0.00685 Appears 8% in Africa, 1% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs7825846 Intergenic - ('cm') 'CT' MAF = 0.00776 Appears 6% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs7829605 Intergenic - ('ao') 'AG' MAF = 0.00868 Appears 9% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs7829753 Intergenic - ('ao') 'AC' MAF = 0.00868 Appears 9% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs7829762 Intergenic - ('ao') 'AG' MAF = 0.00868 Appears 9% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs7833684 Intergenic - ('ao') 'AC' MAF = 0.00868 Appears 1% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs7833771 Intergenic - ('ao') 'AC' MAF = 0.00868 Appears 9% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs7834718 Intergenic - ('mc') 'AG' MAF = 0.00548 Appears 8% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs7839921 Intergenic - ('lr') 'AG' MAF = 0.00776 Appears 5% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs8178216 PRKDC protein kinase, DNA-activated, catalytic polypeptide - missense P3201S ('jd') 'AG' MAF = 0.00045. Appears 1% in Europe and absent elsewhere. The change P<>S is fairly common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs8190844 NAT1 N-acetyltransferase 1 (arylamine N-acetyltransferase) - intron ('ig') 'CT' MAF = 0.00319 Appears 1% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs8192874 CYP7A1 cytochrome P450, family 7, subfamily A, polypeptide 1 - missense N233S ('vs') 'CT' MAF = 0.00274. Possibly 3% in Asia and absent elsewhere. The change N<>S is common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs8192903 CYP7B1 cytochrome P450, family 7, subfamily B, polypeptide 1 - intron ('jy') 'CG' MAF = 0.00137 The 1000 Genome Project gives 1 per 1000. ---------------------------------------------------------------------------------------------------------------- rs9331938 CLU clusterin - missense D328N (1) ('mq') 'CT' MAF = 0.00457. Appears 9% in Africa and 2% elsewhere. The change D<>N is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs9331939 CLU clusterin - synonymous D328D ('dm') 'AG' MAF = 0.00274. Appears 1% worldwide. ---------------------------------------------------------------------------------------------------------------- rs9692790 Intergenic - ('ss') 'CT' MAF = 0.00457 The 1000 Genome Project gives 6 per 1000. ---------------------------------------------------------------------------------------------------------------- rs10081575 Intergenic - ('dd') 'AG' MAF = 0.00731 Appears 15% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs10091516 VPS13B vacuolar protein sorting 13 homolog B (yeast) - intron ('kr') 'CT' MAF = 0.00822 Up to 2% in Europe (esp. Italy) and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs10102408 CRISPLD1 cysteine-rich secretory protein LCCL domain containing 1 - intron ('kr') 'AG' MAF = 0.00594 Maybe 8% in Africa and virtually absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs10107332 OPLAH 5-oxoprolinase (ATP-hydrolysing) - missense G584C ('mh') 'AC' MAF = 0.00548 Possibly 3% in Europe. The change G<>C is uncommon; and could be special when homozygous. ---------------------------------------------------------------------------------------------------------------- rs10113686 Intergenic - ('t2') 'AC' MAF = 0.00822 Appears 11% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs10505435 WDYHV1 WDYHV motif containing 1 - synonymous K60K (3) ('gr') 'AG' MAF = 0.00548 Appears 3% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs10505443 Intergenic - ('kr') 'CT' MAF = 0.00822 Maybe 10% in Europe and absent elsewhere. A European marker. ---------------------------------------------------------------------------------------------------------------- rs10645926 LPL lipoprotein lipase - UTR-3 ('gg','mh') 'DI' MAF = 0.00999 No population data. ---------------------------------------------------------------------------------------------------------------- rs11573944 TNFRSF11B tumor necrosis factor receptor superfamily, member 11b - UTR-3 ('nt') 'AG' MAF = 0.00950. openSNP suggests 1%. ---------------------------------------------------------------------------------------------------------------- rs11573948 TNFRSF11B tumor necrosis factor receptor superfamily, member 11b - UTR-3 ('vg') 'CT' MAF = 0.00600. The 1000 Genome Project gives 6 per 1000. ---------------------------------------------------------------------------------------------------------------- rs11779719 MTDH metadherin - UTR-3 ('dh') 'CT' MAF = 0.00457 Appears 3% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs11780849 LGI3 leucine-rich repeat LGI family, member 3 - intron ('nh') 'AG' MAF = 0.00182 Appears 1% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs11781640 FOXH1 forkhead box H1 - UTR-3 ('eb') 'CT' MAF = 0.00137 Possibly 2% in Europe. ---------------------------------------------------------------------------------------------------------------- rs11784677 Intergenic - ('k') 'CT' MAF = 0.00685 Maybe 10% in Europe and very much lower elsewhere. ---------------------------------------------------------------------------------------------------------------- rs11786893 GGH gamma-glutamyl hydrolase (conjugase, folylpolygammaglutamyl hydrolase) - synonymous A58A ('bg') 'CT' MAF = 0.00182 Possibly 2% in Europe. ---------------------------------------------------------------------------------------------------------------- rs11991783 Intergenic - ('jf') 'CT' MAF = 0.00639 Appears 7% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs11993564 Intergenic - ('cm') 'CT' MAF = 0.00548 Appears about 13% in Africa & Asia and absent in Europe. ---------------------------------------------------------------------------------------------------------------- rs11997611 DLC1 deleted in liver cancer 1 - intron ('na') 'AG' MAF = 0.00639 Appears 10% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs13252585 CYP7B1 cytochrome P450, family 7, subfamily B, polypeptide 1 - intron ('jk') 'AC' MAF = 0.00365 Uncommon, however The 1000 genome Project gives 3 per 1000. ---------------------------------------------------------------------------------------------------------------- rs13264103 CHCHD7 coiled-coil-helix-coiled-coil-helix domain containing 7 - intron ('an') 'AG' MAF = 0.00182 The 1000 Genome Project gives 1 per 1000. ---------------------------------------------------------------------------------------------------------------- rs13271039 CYP7A1 cytochrome P450, family 7, subfamily A, polypeptide 1 - intron ('gh') 'CT' MAF = 0.00274 Appears 0.4% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs13271123 ZFPM2 zinc finger protein, multitype 2 - intron ('ag') 'AG' MAF = 0.00776 Possibly 5% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs13276903 Intergenic - ('n1') 'AC' MAF = 0.00000 openSNP suggest 1%. ---------------------------------------------------------------------------------------------------------------- rs13281766 CA1 carbonic anhydrase I - intron ('ti') 'AG' MAF = 0.00548 The 1000 Genome Project gives 5 per 1000. ---------------------------------------------------------------------------------------------------------------- rs13439310 DOCK5 dedicator of cytokinesis 5 - intron ('bt') 'AG' MAF = 0.00502 Appears 8% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs16884607 CSMD3 CUB and Sushi multiple domains 3 - intron ('kr','ss') 'AG' MAF = 0.00868 maybe 8% in Europe and low elsewhere. ---------------------------------------------------------------------------------------------------------------- rs16904021 Intergenic - ('gg') 'AG' MAF = 0.00868 Possibly 8% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs16904157 FAM49B family with sequence similarity 49, member B - UTR-3 ('dd') 'AG' MAF = 0.00822 Appears 8% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs16905564 Intergenic - ('en') 'CT' MAF = 0.00959 Appears 13% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs16914312 SNTG1 syntrophin, gamma 1 - intron ('nt') 'AG' MAF = 0.00000 Appears 2% in Asia, 1% in Europe and absent from Africa. ---------------------------------------------------------------------------------------------------------------- rs16936029 SULF1 sulfatase 1 - intron 'AC' MAF = 0.00319 The 1000 Genome Project gives 3 per 1000. ('al') 'AA' ---------------------------------------------------------------------------------------------------------------- rs17059313 EXTL3 exostoses (multiple)-like 3 - intron ('ji') 'CT' MAF = 0.00685 The 1000 Genome Project gives 6 per 1000. ---------------------------------------------------------------------------------------------------------------- rs17362412 RAB11FIP1 RAB11 family interacting protein 1 (class I) - synonymous H858H ('ic') 'AG' MAF = 0.00411 The 1000 Genome Project gives 4 per 1000. ---------------------------------------------------------------------------------------------------------------- rs17478478 ESCO2 establishment of cohesion 1 homolog 2 (S. cerevisiae) - UTR-5 ('ma') 'AC' MAF = 0.00319 Appears 3% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs17502618 VPS37A vacuolar protein sorting 37 homolog A (S. cerevisiae) - missense I206F ('jw') 'AT' MAF = 0.00502 Appears 4% in Europe and absent elsewhere. The change I<>F is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs17526980 KIF13B kinesin family member 13B - missense V1471I ('ap') 'CT' MAF = 0.00731 maybe 3% in Europe and less elsewhere. The change V<>I is common. ---------------------------------------------------------------------------------------------------------------- rs17595818 PSD3 pleckstrin and Sec7 domain containing 3 - UTR-3 ('sv') 'AG' MAF = 0.00365 Appears 3% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs17687375 VPS37A vacuolar protein sorting 37 homolog A (S. cerevisiae) - missense I213V ('wh') 'AG' MAF = 0.00959 Appears 12% in Asia and absent elsewhere. The change I<>V is common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs17736439 EIF4EBP1 eukaryotic translation initiation factor 4E binding protein 1 - intron ('cl') 'AG' MAF = 0.00274. Appears 2% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs17747688 Intergenic - ('k') 'CT' MAF = 0.00776 Maybe 9% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs17775790 AZIN1 antizyme inhibitor 1 - UTR-3 ('ss') 'CT' MAF = 0.00137 Possibly 3% in Europe. ---------------------------------------------------------------------------------------------------------------- rs17783962 RBM12B RNA binding motif protein 12B - intron ('kr') 'CT' MAF = 0.00137 maybe 2% in Europe and lower elsewhere. ---------------------------------------------------------------------------------------------------------------- rs28359489 NAT1 N-acetyltransferase 1 (arylamine N-acetyltransferase) - intron ('mu') 'AC' MAF = 0.00776 The 1000 Genome Project gives 8 per 1000. ---------------------------------------------------------------------------------------------------------------- rs28359496 NAT1 N-acetyltransferase 1 (arylamine N-acetyltransferase) - intron ('aa') 'CT' MAF = 0.00319 Appears 4% in Asia and less elsewhere. ---------------------------------------------------------------------------------------------------------------- rs28359510 NAT1 N-acetyltransferase 1 (arylamine N-acetyltransferase) - intron ('al') 'AG' MAF = 0.00600 The 1000 Genome Project gives 6 per 1000. ---------------------------------------------------------------------------------------------------------------- rs28359516 NAT1 N-acetyltransferase 1 (arylamine N-acetyltransferase) - intron ('f0') 'CT' MAF = 0.00365 The 1000 Genome Project gives 3 per 1000. ---------------------------------------------------------------------------------------------------------------- rs28359524 NAT1 N-acetyltransferase 1 (arylamine N-acetyltransferase) - intron ('bb') 'AG' MAF = 0.00731 Possibly 3% in Europe and lower elsewhere. ---------------------------------------------------------------------------------------------------------------- rs28472843 NCALD neurocalcin delta - ('b') 'CG' MAF = 0.00000 No population data. ---------------------------------------------------------------------------------------------------------------- rs34191549 BRF2 BRF2, subunit of RNA polymerase III transcription initiation factor - Synonymous V194V ('jy') 'CT' MAF = 0.00914. The 1000 Genome Project gives about 1%. ---------------------------------------------------------------------------------------------------------------- rs34293591 RECQL4 RecQ protein-like 4 - missense V799M ('gb') 'CT' MAF = 0.00274. Possibly 5% in Europe and absent elsewhere. The change V<>M is common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs34666647 RECQL4 RecQ protein-like 4 - missense R1021Q ('di') 'CT' MAF = 0.00000. Uncommon. Possibly up to 4% in Spain. The change R<>Q is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs34752346 RNF170 ring finger protein 170 - intron ('gn') 'AG' MAF = 0.00548 Appears 3% in Europe and less elsewhere. ---------------------------------------------------------------------------------------------------------------- rs34853213 LOC729732 uncharacterized LOC729732 - intron ('ss') 'CT' MAF = 0.00548 Possibly 3% in Europe. ---------------------------------------------------------------------------------------------------------------- rs35144699 Intergenic - ('b','k') 'AT' MAF = 0.00999 No population data. ('i','mh') 'TT' ---------------------------------------------------------------------------------------------------------------- rs35155257 ADRB3 adrenergic, beta-3-, receptor - UTR-3 ('zn') 'CT' MAF = 0.00228. Possibly 8% in Africa and less elsewhere. ---------------------------------------------------------------------------------------------------------------- rs35301433 TG thyroglobulin - missense I109V ('tu') 'AG' MAF = 0.00182 The 1000 Genome Project gives 1 per 1000. The change I<>V is common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs35777397 FLJ46284 uncharacterized LOC441369 - intron ('bn') 'AG' MAF = 0.00639 Appears 2% in Europe. ---------------------------------------------------------------------------------------------------------------- rs35909721 Intergenic - ('lw') 'AG' MAF = 0.00776 Appears 6% in Europe and less elsewhere. ---------------------------------------------------------------------------------------------------------------- rs36068168 NPBWR1 neuropeptides B/W receptor 1 - missense R319C ('dd') 'CT' MAF = 0.00822 The 1000 Genome Project now gives 5 per 1000. The change R<>C is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs41341748 MSR1 macrophage scavenger receptor 1 - missense R293X ('mf') 'AG' MAF = 0.00700 Appears 1% worldwide. The change R<>X is a frameshift error and could be significant. ---------------------------------------------------------------------------------------------------------------- rs56172717 NAT1 N-acetyltransferase 1 (arylamine N-acetyltransferase) - missense D251V ('zn') 'AT' MAF = 0.00999 Possibly 1% in Europe. The change D<>V is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs56233953 ADRA1A adrenergic, alpha-1A-, receptor - missense R166K ('ss') 'CT' MAF = 0.00365 About 1% worldwide. The change R<>K is rare and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs56902012 NEFM neurofilament, medium polypeptide - missense G336S ('i') 'AG' MAF = 0.00999 No population data. ---------------------------------------------------------------------------------------------------------------- rs57658073 NEFM neurofilament, medium polypeptide - missense V482I ('vk') 'AG' MAF = 0.00091 The 1000 Genome Project gives 1 per 1100. The change V<>I is common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs57810298 NEFM neurofilament, medium polypeptide - missense V342A ('dy') 'CT' MAF = 0.00999 openSNP suggest about 1%. The change V<>A is common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs59419000 NEFM neurofilament, medium polypeptide - synonymous N368N ('br') 'CT' MAF = 0.00411 The 1000 Genome Project gives 4 per 1000. ---------------------------------------------------------------------------------------------------------------- rs60156239 NEFL neurofilament, light polypeptide - synonymous L233L ('ly') 'AG' MAF = 0.00319. The 1000 Genome Project gives 3 per 1000. ---------------------------------------------------------------------------------------------------------------- rs61752118 PEX2 peroxisomal biogenesis factor 2 - missense Q39X (1) ('j4') 'AG' MAF = 0.00999 An uncommon SNP The protein is truncated and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs61528354 NEFM neurofilament, medium polypeptide - missense A99T ('lk') 'AG' MAF = 0.00365 The 1000 Genome Project gives 3 per 1000. The change A<>T is common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs61754795 NBN nibrin - synonymous A127A ('or') 'AG' MAF = 0.00300. The 1000 Genome Project gives 3 per 1000. ---------------------------------------------------------------------------------------------------------------- rs62621283 CYP7A1 cytochrome P450, family 7, subfamily A, polypeptide 1 - missense H86N ('nd') 'GT' MAF = 0.00365 The 1000 Genome Project gives 3 per 1000. The change H<>N is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs62636522 NEFL neurofilament, light polypeptide - missense I213M ('sm') 'CG' MAF = 0.00045 The 1000 Genome Project gives 4 per 1000. The change I<>M is fairly common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- ----------------------------------------------------------------------------------------------------------------