Chromosome 5
Chromosome 4 << >> Chromosome 6Back
---------------------------------------------------------------------------------------------------------------- Summary of data - 'Chromosome 5a rs2135917 - rs6897379' No data = 0 Rare SNPs = 26 Minor Allele Frequency >0 and <0.01 = 124 Minor Allele Frequency >=0.01 and <0.02 = 372 Minor Allele Frequency >=0.02 and <0.03 = 410 Minor Allele Frequency >=0.03 and <0.05 = 891 Minor Allele Frequency >=0.05 and <0.5 = 18172 Total of SNPs = 19995 There are also 73 i-SNPs for which there is no data ---------------------------------------------------------------------------------------------------------------- Summary of data - 'Chromosome '5b rs7733469 - rs17169129' No data = 0 Rare SNPs = 62 Minor Allele Frequency >0 and <0.01 = 233 Minor Allele Frequency >=0.01 and <0.02 = 371 Minor Allele Frequency >=0.02 and <0.03 = 384 Minor Allele Frequency >=0.03 and <0.05 = 840 Minor Allele Frequency >=0.05 and <0.5 = 18102 Total of SNPs = 19992 There are also 92 i-SNPs for which there is no data ---------------------------------------------------------------------------------------------------------------- Summary of data - 'Chromosome '5c rs17597705 - rs6894609' No data = 0 Rare SNPs = 78 Minor Allele Frequency >0 and <0.01 = 317 Minor Allele Frequency >=0.01 and <0.02 = 313 Minor Allele Frequency >=0.02 and <0.03 = 288 Minor Allele Frequency >=0.03 and <0.05 = 596 Minor Allele Frequency >=0.05 and <0.5 = 14141 Total of SNPs = 15733 There are also 116 i-SNPs for which there is no data ----------------------------------------------------------------------------------------------------------------
Example Reports:
---------------------------------------------------------------------------------------------------------------- ---------------------------------------------------------------------------------------------------------------- Person:- 'b' (email withheld) <0.01: rs1348495 at Chr5:22356233 gave 'AG' The minor allele is 'G' with a MAF = 0.00822. rs1805328 at Chr5:34947671 gave 'CG' The minor allele is 'C' with a MAF = 0.00822 rs2112210 at Chr5:112110844 gave 'AG' The minor allele is 'G' with a MAF = 0.00999 rs62364016 at Chr5:112133117 gave 'GT' The minor allele is 'T' with a MAF = 0.00999 rs66964065 at Chr5:112157653 gave 'AG' The minor allele is 'A' with a MAF = 0.00999 rs17482536 at Chr5:115348269 gave 'CT' The minor allele is 'T' with a MAF = 0.00731 ---------------------------------------------------------------------------------------------------------------- Person:- 'i' (email withheld) <0.01: rs1348495 at Chr5:22356233 gave 'AG' The minor allele is 'G' with a MAF = 0.00822. rs17435258 at Chr5:32161891 gave 'GT' The minor allele is 'T' with a MAF = 0.00502 rs17145055 at Chr5:118637046 gave 'GT' The minor allele is 'G' with a MAF = 0.00000 rs28383481 at Chr5:131757279 gave 'AG' The minor allele is 'A' with a MAF = 0.00365 rs1800888 at Chr5:148187078 gave 'CT' The minor allele is 'T' with a MAF = 0.00900 rs28362591 at Chr5:176663798 gave 'CT' The minor allele is 'T' with a MAF = 0.00685. ---------------------------------------------------------------------------------------------------------------- Person:- 'k' (email withheld) <0.01: rs11741846 at Chr5:81355580 gave 'AG' The minor allele is 'G' with a MAF = 0.00365 rs3857360 at Chr5:103017328 gave 'AC' The minor allele is 'C' with a MAF = 0.00999 rs2112210 at Chr5:112110844 gave 'AG' The minor allele is 'G' with a MAF = 0.00999 rs62364016 at Chr5:112133117 gave 'GT' The minor allele is 'T' with a MAF = 0.00999 rs66964065 at Chr5:112157653 gave 'AG' The minor allele is 'A' with a MAF = 0.00999 rs3811993 at Chr5:161049250 gave 'CT' The minor allele is 'T' with a MAF = 0.00959. ---------------------------------------------------------------------------------------------------------------- ----------------------------------------------------------------------------------------------------------------Submitted RS details for the <0.01 results:
rs number gene details type ---------------------------------------------------------------------------------------------------------------- ---------------------------------------------------------------------------------------------------------------- rs5894 F2R coagulation factor II (thrombin) receptor - synonymous S172S ('tg') 'GT' MAF = 0.00274 Possibly 4% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs5908 HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase - missense I638V ('tu') 'AG' MAF = 0.00594. Appears 4% in Europe, 2% in Asia and absent from Africa. The change I<>V is common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs28043 PPIP5K2 diphosphoinositol pentakisphosphate kinase 2 - intron ('ls') 'AG' MAF = 0.00639 Possibly 6% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs33414 Intergenic - ('je') 'CT' MAF = 0.00457. Appears 8% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs30832 SLC26A2 solute carrier family 26 (sulfate transporter), member 2 - missense I574T ('ac') 'CT' MAF = 0.00228. Appears 1% in Europe and absent elsewhere. The change I<>T is common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs42766 MYO10 myosin X - missense G1591V (2) ('kr') 'AC' MAF = 0.00000. An uncommon SNP. The change G<>V is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs155417 DRD1 dopamine receptor D1 - synonymous S421S ('jj') 'CT' MAF = 0.00685 Appears 3% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs168692 FAM174A family with sequence similarity 174, member A - intron ('ls') 'CT' MAF = 0.00822. Possibly 7% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs245071 PDE6A phosphodiesterase 6A, cGMP-specific, rod, alpha - intron ('lz') 'CT' MAF = 0.00776. Appears 10% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs270600 SLC22A4 solute carrier family 22 (organic cation/ergothioneine transporter) - intron ('vs') 'CT' MAF = 0.00502. Appears 4% in Asia and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs284438 Intergenic - ('jl') 'AG' MAF = 0.00548. Possibly 1% in Europe. ---------------------------------------------------------------------------------------------------------------- rs314823 Intergenic - 'GT' MAF = 0.00000 Appears 15% in Africa, 13% in Asia and absent from Europe. ('mi') 'GG' ---------------------------------------------------------------------------------------------------------------- rs540979 Intergenic - ('sv') 'CT' MAF = 0.00685. Appears 1% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs717925 Intergenic - ('pc') 'CG' MAF = 0.00868 Appears 10% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs725522 PCSK1 proprotein convertase subtilisin/kexin type 1 - nearGene-5 ('mr') 'AG' MAF = 0.00822 The 1000 Genome Project gives 8 per 1000. ---------------------------------------------------------------------------------------------------------------- rs782991 NIM1 serine/threonine-protein kinase NIM1 - intron ('gn') 'CT' MAF = 0.00548. Appears 6% in Africa, 1% in Europe and absent from Asia. ---------------------------------------------------------------------------------------------------------------- rs1051309 ANKHD1 ankyrin repeat and KH domain containing 1 - missense G1586S ('ls') 'AG' MAF = 0.00731 Appears 2% worldwide. The change G<>S in fairly common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs1348495 CDH12 cadherin 12, type 2 (N-cadherin 2) - intron ('b','i') 'AG' MAF = 0.00822. Maybe 10% in Europe and less elsewhere. ---------------------------------------------------------------------------------------------------------------- rs1697144 CD180 CD180 molecule - missense I223V ('sy') 'CT' MAF = 0.00548. Appears 15% in Asia,and absent in Africa and Europe. The change I<>V is common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs1800888 ADRB2 adrenergic, beta-2-, receptor, surface - missense T164I ('i') 'CT' MAF = 0.00900 About 3% in Europe and Asia. Possibly absent from Africa. The change T<>I is common. ---------------------------------------------------------------------------------------------------------------- rs1801155 APC adenomatous polyposis coli - missense I1307K ('tk') 'AT' MAF = 0.00100 Uncommon, appears 1 per 1000. The change I<>K is uncommon and the homozygous form could be significant. Carrier for 'Jewish' colon cancer risk, see: http://www.ncbi.nlm.nih.gov/pubmed/16228836, http://www.ncbi.nlm.nih.gov/pubmed/14624392 & http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2889843/pdf/1471-2156-11-39.pdf ---------------------------------------------------------------------------------------------------------------- rs1805328 RAD1 RAD1 homolog (S. pombe) - missense T104S ('b') 'CG' MAF = 0.00822 Appears to be about 2% worldwide. The change T<>S is fairly uncommon, but the amino acids are fairly similar. ---------------------------------------------------------------------------------------------------------------- rs2069700 F2RL2 coagulation factor II (thrombin) receptor-like 2 - unknown ('gr') 'CT' MAF = 0.00868. Possibly 3% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs2074610 SLC22A5 solute carrier family 22 (organic cation/carnitine transporter) - intron ('ds') 'CT' MAF = 0.00685. Appears 9% in Asia and 1% in both Europe and Africa. ---------------------------------------------------------------------------------------------------------------- rs2112210 APC adenomatous polyposis coli - intron ('b','k') 'AG' MAF = 0.00999 No population data. ---------------------------------------------------------------------------------------------------------------- rs2227799 F2R coagulation factor II (thrombin) receptor - missense S412Y ('cd') 'AC' MAF = 0.00000 Appears 1 per 1000 worldwide. The change S<>Y is fairly uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs2229995 APC adenomatous polyposis coli - missense G2502S ('cd') 'AG' MAF = 0.00868 Possibly 6% in Europe and less common elsewhere. The change G<>S is fairly uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs2231477 CDC23 cell division cycle 23 homolog (S. cerevisiae) - intron ('wv') 'CT' MAF = 0.00319. Appears 2% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs2233289 TNIP1 TNFAIP3 interacting protein 1 - missense A146V ('sv') 'AG' MAF = 0.00868. Appears 5% in Europe, 2% in Asia and 1% in Africa. The change A<>V is common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs2243062 F2RL1 coagulation factor II (thrombin) receptor-like 1 - missense R270L ('rf') 'AG' MAF = 0.00639 Appears 11% in Africa and absent elsewhere. The change R<>L is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs2243072 F2RL1 coagulation factor II (thrombin) receptor-like 1 - missense S21F ('ut') 'CT' MAF = 0.00548 Possibly 8% in Europe and absent elsewhere. The change S<>F is common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs2303654 LHFPL2 lipoma HMGIC fusion partner-like 2 - missense I102V ('q4') 'CT' MAF = 0.00365. The 1000 Genome Project gives 3 per 1000. The change I<>V is common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs2306111 Intergenic - 'CT' MAF = 0.00411 Appears 11% in Asia. ('j4') 'CC' ---------------------------------------------------------------------------------------------------------------- rs3172747 KIF20A kinesin family member 20A - missense P839L ('er') 'CT' MAF = 0.00685 Appears 2% in Europe and Asia, but absent from Africa. The change P<>L is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs3213096 IL12B interleukin 12B - missense V33I (1) ('j6') 'CT' MAF = 0.00639. Appears 1% in Europe and absent elsewhere. The change V<>I is common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs3213102 IL12B interleukin 12B (natural killer cell stimulatory factor 2 - intron ('gb') 'CT' MAF = 0.00731. Possibly 3% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs3733712 PCDHA1 protocadherin alpha 1 - missense N449H (1) ('jd') 'AC' MAF = 0.00502. Appears 4% in Asia, 3% in Europe and absent from Africa. The change N<>H is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs3734053 FAT2 FAT tumor suppressor homolog 2 (Drosophila) - missense A2907T ('dh') 'CT' MAF = 0.00319 Appears 5% in Europe and absent elsewhere. The change A<>T is common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs3756691 SMAD5 SMAD family member 5 - UTR-5 ('mi') 'AG' MAF = 0.00639 Appears 7% in Asia and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs3777119 FAM13B family with sequence similarity 13, member B - UTR-3 ('bt') 'CT' MAF = 0.00914. The 1000 Genome Project gives 1 per 1100. ---------------------------------------------------------------------------------------------------------------- rs3798155 REEP2 receptor accessory protein 2 - UTR-3 ('ri') 'AG' MAF = 0.00502 Appears 11% in Asia and absent elsewhere. ('jt') 'AA' ---------------------------------------------------------------------------------------------------------------- rs3811993 GABRA6 gamma-aminobutyric acid (GABA) A receptor, alpha 6 - missense T187M ('k') 'CT' MAF = 0.00959 Maybe 3% in Europe. The change T<>M is common. ---------------------------------------------------------------------------------------------------------------- rs3815759 ARRDC3 arrestin domain containing 3 - intron ('ut') 'GT' MAF = 0.00365. Appears 1% in Europe and Asia, and absent from Africa. ---------------------------------------------------------------------------------------------------------------- rs3822376 NR3C1 nuclear receptor subfamily 3, group C, member 1 - intron ('rz') 'AC' MAF = 0.00776. The 1000 Genome Project gives 7 per 1000. ---------------------------------------------------------------------------------------------------------------- rs3822587 POLK polymerase (DNA directed) kappa - missense I612V ('vs') 'AG' MAF = 0.00776. Appears 7% in Asia and absent elsewhere. The change I<>V is common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs3846717 APC adenomatous polyposis coli - intron ('ds') 'AG' MAF = 0.00594 Appears 3% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs3853129 ADAMTS19 ADAM metallopeptidase with thrombospondin type 1 motif, 19 - nearGene-5 ('br') 'AC' MAF = 0.00365. Appears 1% in Europe. ('vp') 'AA' ---------------------------------------------------------------------------------------------------------------- rs3857360 Intergenic - ('k','ut') 'AC' MAF = 0.00999 No population data. ---------------------------------------------------------------------------------------------------------------- rs4151681 PCDHA1 protocadherin alpha 1 - intron ('ls') 'AG' MAF = 0.00548 Possibly 1% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs4342275 Intergenic - ('ss') 'AC' MAF = 0.00822 Possibly 1% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs4529225 DMXL1 Dmx-like 1 - intron ('jn') 'AG' MAF = 0.00365 The 1000 Genome Project gives 3 per 1000. ---------------------------------------------------------------------------------------------------------------- rs4605765 Intergenic - ('tt') 'CT' MAF = 0.00868 Possibly 15% in Europe, 1% in Africa and absent from Asia. ---------------------------------------------------------------------------------------------------------------- rs4987110 APC adenomatous polyposis coli - intron ('jw') 'AG' MAF = 0.00365 Appears 1% in Europe, 1% in Africa and absent from Asia. ---------------------------------------------------------------------------------------------------------------- rs5744529 CD180 CD180 molecule - UTR-3 ('rz') 'CT' MAF = 0.00594. Possibly 6% in Africa, 1% in Europe and absent from Asia. ---------------------------------------------------------------------------------------------------------------- rs6595908 ADAMTS19 ADAM metallopeptidase with thrombospondin type 1 motif, 19 - missense S367G ('wv') 'AG' MAF = 0.00137 Appears about 1% worldwide. The change S<>G is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs6863809 NDST1 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1 - UTR-3 ('ss') 'AG' MAF = 0.00959 Possibly 9% in Europe and absent elsewhere. ('rf') 'AA' ---------------------------------------------------------------------------------------------------------------- rs6868775 Intergenic - ('kw') 'AG' MAF = 0.00548 Appears 5% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs6873889 TMED7-TICAM2 TMED7-TICAM2 readthrough - intron ('jp') 'CT' MAF = 0.00959 Appears 8% in Africa, 4% in Asia and absent from Europe. --------------------------------------------------------------------------------------------------------------- rs6882462 Intergenic - ('na') 'CT' MAF = 0.00959 Appears 10% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs6884762 RAD50 RAD50 homolog (S. cerevisiae) - intron ('st') 'CT' MAF = 0.00822 Appears 11% in Europe, 9% in Asia and 1% in Africa. ---------------------------------------------------------------------------------------------------------------- rs6884930 TRIO triple functional domain (PTPRF interacting) - intron ('mb') 'CT' MAF = 0.00868 Appears 7% in Europe and much less elsewhere. ---------------------------------------------------------------------------------------------------------------- rs6887007 Intergenic - ('mh') 'AC' MAF = 0.00731 Maybe 1% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs7448941 PAIP2 poly(A) binding protein interacting protein 2 - intron ('zl') 'AG' MAF = 0.00959 Appears 11% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs7701892 CANX calnexin - nearGene-5 ('ds') 'AG' MAF = 0.00400 The 1000 Genome Project give 4 per 1000. ---------------------------------------------------------------------------------------------------------------- rs7703627 Intergenic - ('ls') 'AG' MAF = 0.00502 Appears about 4% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs7708498 Intergenic - ('vp') 'CT' MAF = 0.00868 Appears 8% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs7713754 AFF4 AF4/FMR2 family, member 4 - intron ('tu') 'CT' MAF = 0.00776 Appears 5% in Europe, 1% in Asia and absent from Africa. ---------------------------------------------------------------------------------------------------------------- rs7715491 Intergenic - ('fk') 'AG' MAF = 0.00868 Appears 4% in Africa, 2% in Asia and 1% in Europe. ---------------------------------------------------------------------------------------------------------------- rs7730228 Intergenic - ('vg') 'AC' MAF = 0.00228 The 1000 Genome Project gives 2 per 1000. ---------------------------------------------------------------------------------------------------------------- rs7730379 Intergenic - ('na') 'AG' MAF = 0.00914 Appears 6% in Africa, 4% in Europe and absent from Asia. ---------------------------------------------------------------------------------------------------------------- rs7733307 Intergenic - ('sk') 'CT' MAF = 0.00400 Appears 1% in Europe, up to 25% in Africa and 9% in Asia. ---------------------------------------------------------------------------------------------------------------- rs8177425 GPX3 glutathione peroxidase 3 (plasma) - intron ('kr') 'CT' MAF = 0.00914 Maybe 6% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs8192451 ADRB2 adrenergic, beta-2-, receptor, surface - UTR-3 ('ss') 'CT' MAF = 0.00137 Maybe about 1% worldwide. ---------------------------------------------------------------------------------------------------------------- rs9313938 Intergenic - ('bt') 'GT' MAF = 0.00502 Appears 8% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs10036862 Intergenic - ('mh') 'AG' MAF = 0.00914 Maybe 5% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs10036603 Intergenic - ('jd') 'CT' MAF = 0.00000 Appears 17% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs10038689 COL4A3BP collagen, type IV, alpha 3 (Goodpasture antigen) - intron ('cm') 'CT' MAF = 0.00959 Appears 4% in Europe, higher in Asia and absent in Africa. ---------------------------------------------------------------------------------------------------------------- rs10056448 DDX4 DEAD (Asp-Glu-Ala-Asp) box polypeptide 4 - intron ('ar') 'CT' Appears 5% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs10060144 HTR4 5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled - nearGene-5 ('tt') 'CT' MAF = 0.00959 Appears 14% in Africa, 4% in Europe and absent from Asia. ---------------------------------------------------------------------------------------------------------------- rs10061494 Intergenic - ('ah') 'AG' MAF = 0.00228 Appears 3% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs10062629 Intergenic - ('si') 'AG' MAF = 0.00868 Possibly 4% in Europe. ---------------------------------------------------------------------------------------------------------------- rs10062937 FCHO2 FCH domain only 2 - intron ('ad') 'GT' MAF = 0.00228 Appears 1% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs10064364 Intergenic - ('nh') 'CT' MAF = 0.00228 The 1000 Genome Project gives 2 per 1000. ---------------------------------------------------------------------------------------------------------------- rs10073204 CDH12 cadherin 12, type 2 (N-cadherin 2) - intron ('gb') 'AC' MAF = 0.00685 Possibly 5% in Africa and absent elsewhere. --------------------------------------------------------------------------------------------------------------- rs10454915 IQGAP2 IQ motif containing GTPase activating protein 2 - missense N1184S ('gb') 'AG' MAF = 0.00639 Possibly 5% in Europe and absent elsewhere. ('tu') 'GG' The change N<>S is common and unlikely to be signficant here. ---------------------------------------------------------------------------------------------------------------- rs10472400 Intergenic - ('je') 'CT' MAF = 0.00685 Appears 8% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs10474435 HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase - UTR-3 ('cm') 'CT' MAF = 0.00914 Appears 7% in Europe, higher in Asia and absent in Africa. ---------------------------------------------------------------------------------------------------------------- rs10479076 CDKL3 cyclin-dependent kinase-like 3 - intron ('jp') 'AG' MAF = 0.00400 The 1000 Genome Project gives 4 per 1000. ---------------------------------------------------------------------------------------------------------------- rs10482623 NR3C1 nuclear receptor subfamily 3, group C, member 1 - intron ('mj') 'CT' MAF = 0.00594. Possibly 1% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs10482653 NR3C1 nuclear receptor subfamily 3, group C, member 1 - intron ('f0') 'AG' MAF = 0.00822. Appears 1% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs10482658 NR3C1 nuclear receptor subfamily 3, group C, member 1 - intron ('gr') 'CT' MAF = 0.00548. Appears 1% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs10482680 NR3C1 nuclear receptor subfamily 3, group C - intron ('ds') 'AG' MAF = 0.00600. The 1000 genome Project give6 per 1000. ---------------------------------------------------------------------------------------------------------------- rs10482683 NR3C1 nuclear receptor subfamily 3, group C, member 1 - intron ('mj') 'AG' MAF = 0.00959. Possibly 1% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs10482694 NR3C1 nuclear receptor subfamily 3, group C, member 1 - UTR-3 ('rf') 'AG' MAF = 0.00319. Appears 4% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs10515088 Intergenic - ('mj') 'AG' MAF = 0.00548 Possibly 6% in Europe and absent elsewhere. ('gb') 'GG' A 'rare' result. ---------------------------------------------------------------------------------------------------------------- rs11466811 ADAM19 ADAM metallopeptidase domain 19 - UTR-3 ('rp') 'GT' MAF = 0.00365. The 1000 Genome Project gives 3 per 1000. ---------------------------------------------------------------------------------------------------------------- rs11738142 Intergenic - ('j6') 'AC' The 1000 Genome Project gives 2 per 1000. ---------------------------------------------------------------------------------------------------------------- rs11739735 UBE2D2 ubiquitin-conjugating enzyme E2D 2 - intron ('lw') 'CT' MAF = 0.00594 Appears 3% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs11741846 ATG10 ATG10 autophagy related 10 homolog (S. cerevisiae) - intron ('k','eb') 'AG' MAF = 0.00365 Maybe 3% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs11743044 POLR3G polymerase (RNA) III (DNA directed) polypeptide G (32kD) - UTR-3 ('jj') 'AC' MAF = 0.00045 The 1000 Genome Project gives 4 per 1000. ---------------------------------------------------------------------------------------------------------------- rs11745673 GRPEL2 GrpE-like 2, mitochondrial (E. coli) - nearGene-5 ('ah') 'CT' MAF = 0.00091 Appears 1% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs11747715 FBXL7 F-box and leucine-rich repeat protein 7 - intron ('nt') 'CT' MAF = 0.00639 Appears 2% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs11749469 SAR1B SAR1 homolog B (S. cerevisiae) - intron ('pi') 'AG' MAF = 0.00548 Appears 8% in Asia, 4% in Europe and absent from Africa. ---------------------------------------------------------------------------------------------------------------- rs11948917 Intergenic - ('mq') 'AG' MAF = 0.00959 Appears 8% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs11954852 Intergenic - ('ao') 'AG' MAF = 0.00000 Appeas 36% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs11958456 Intergenic - ('mp') 'AG' MAF = 0.00959 Appears 11% in Africa, 2% in Asia and absent from Europe. ---------------------------------------------------------------------------------------------------------------- rs11959360 Intergenic - ('ao') 'AG' MAF = 0.00822 Appears 15% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs11960683 Intergenic - ('er') 'CT' MAF = 0.00365 The 1000 Genome Project gives just 3 per 1000. ---------------------------------------------------------------------------------------------------------------- rs11960921 Intergenic - ('jk') 'CT' MAF = 0.00228 Possibly 2% in Europe and less elsewhere. ---------------------------------------------------------------------------------------------------------------- rs12152954 Intergenic - ('ru') 'CT' MAF = 0.00457 Appears 1% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs12187462 HK3 hexokinase 3 (white cell) - intron ('jp') 'CT' MAF = 0.00685 Appears 6% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs12517385 PCDH1 protocadherin 1 - missense L15F ('dm') 'AG' MAF = 0.00900 Appears about 1% worldwide. The change L<>F is common and this SNP is unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs13161296 COX7C cytochrome c oxidase subunit VIIc - nearGene-5 ('sk') 'CT' MAF = 0.00822 Possibly 10% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs13162910 LINC00461 long intergenic non-protein coding RNA 461 - intron ('cm') 'CT' MAF = 0.00822 Possibly 7% in Europe and absent elsewhere. ('nb') 'CC' ---------------------------------------------------------------------------------------------------------------- rs13167382 ITK IL2-inducible T-cell kinase - intron ('pc') 'AG' MAF = 0.00959 Appears 5% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs13167812 UIMC1 ubiquitin interaction motif containing 1 - missense R15W ('ma') 'AG' MAF = 0.00685 Appears 4% in Europe and absent elsewhere. The change R<>W is rare and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs13171868 GPR98 G protein-coupled receptor 98 - missense S3646P ('kr') 'CT' MAF = 0.00182 Maybe 1% in Europe and absent elsewhere. The change S<>P is common and not normally harmful. ---------------------------------------------------------------------------------------------------------------- rs13176111 BRD8 bromodomain containing 8 - intron ('bn') 'AG' MAF = 0.00400 The 1000 Genome Project gives 4 per 1000. ---------------------------------------------------------------------------------------------------------------- rs13186304 RASA1 RAS p21 protein activator (GTPase activating protein) 1 - intron ('st') 'AG' MAF = 0.00502 Possibly 4% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs13187882 ITK IL2-inducible T-cell kinase - intron ('pc') 'AG' MAF = 0.00959 Appears 9% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs13356260 FLJ16171 FLJ16171 protein - intron ('wh') 'AG' MAF = 0.00776 Appears 8% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs13361442 NR3C1 nuclear receptor subfamily 3, group C, member 1 - intron ('mk') 'CT' MAF = 0.00319 Appears 4% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs16902499 FCHO2 FCH domain only 2 - intron ('pc') 'AG' MAF = 0.00776 Appears 7% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs17078894 GRM6 glutamate receptor, metabotropic 6 - missense V243F ('ly') 'AC' MAF = 0.00200. Appears 3 per 1000 worldwide. The change V<>F is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs17107315 SPINK1 serine peptidase inhibitor, Kazal type 1 - missense N34S ('ch') 'CT' MAF = 0.00400. Appears about 1% worldwide. ('nc') 'CC' The change N<>S is common and is unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs17145055 TNFAIP8 tumor necrosis factor, alpha-induced protein 8 - intron ('i') 'GT' MAF = 0.00000 Maybe 9% in Europe and less elsewhere. ---------------------------------------------------------------------------------------------------------------- rs17167672 DDX46 DEAD (Asp-Glu-Ala-Asp) box polypeptide 46 - synonymous K948K ('na') 'AG' MAF = 0.00685 Appears12% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs17194404 LHFPL2 lipoma HMGIC fusion partner-like 2 - UTR-3 ('il') 'AG' MAF = 0.00365 Appears 4% in Europe, 1% in Asia and absent from Africa. ---------------------------------------------------------------------------------------------------------------- rs17238372 HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase - intron ('f0') 'AG' MAF = 0.00411 Possibly 2% in Europe and less elsewhere. ---------------------------------------------------------------------------------------------------------------- rs17240173 TRIM23 tripartite motif containing 23 - synonymous S286S ('wv') 'CT' MAF = 0.00914 Appears 5% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs17244778 HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase - intron ('mn') 'CT' MAF = 0.00914 The 1000 Genome Project gives about 1%. ---------------------------------------------------------------------------------------------------------------- rs17253369 PIK3R1 phosphoinositide-3-kinase, regulatory subunit 1 (alpha) - UTR-3 ('tg') 'AC' MAF = 0.00639 Appears 4% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs17254174 CMYA5 cardiomyopathy associated 5 - missense S1725L ('mj') 'CT' MAF = 0.00319 Appears 1% in Europe, possibly highest in Italy. The change S<>L is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs17318151 ARID1B AT rich interactive domain 1B (SWI1-like) - missense I560V ('bb') 'AG' MAF = 0.00868 Appears 2% in Europe and absent elsewhere. The change I<>V is very common. ---------------------------------------------------------------------------------------------------------------- rs17435258 GOLPH3 golgi phosphoprotein 3 (coat-protein) - UTR-3 ('i') 'GT' MAF = 0.00502 Maybe 5% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs17477896 ATG12 ATG12 autophagy related 12 homolog (S. cerevisiae) - UTR-3 ('dh') 'CT' MAF = 0.00274 Appears 2% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs17482536 AQPEP laeverin - synonymous D314D ('b') 'CT' MAF = 0.00731 Maybe 2% worldwide. ---------------------------------------------------------------------------------------------------------------- rs17524123 SLC35A4 solute carrier family 35, member A4 - UTR-5 ('jd') 'AG' MAF = 0.00685 Appears 4% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs17550568 MEF2C myocyte enhancer factor 2C - UTR-3 ('dh') 'GT' MAF = 0.00228 Appears 4% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs17613128 FAM134B family with sequence similarity 134, member B - intron ('mh','kr') 'GT' MAF = 0.00502. Maybe 3% in Europe and less elsewhere. ('ss','pi') 'TT' ---------------------------------------------------------------------------------------------------------------- rs17689328 SLC22A4 solute carrier family 22 (organic cation/ergothioneine transporter) - intron ('tu') 'CT' MAF = 0.00502 Appears 3% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs17802503 LHFPL2 lipoma HMGIC fusion partner-like 2 - UTR-3 ('jd') 'AG' MAF = 0.00182 Appears 1% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs17844329 PCDHA9 protocadherin alpha 9 - missense A452E ('di') 'AC' MAF = 0.00182 The 1000 Genome Project gives just 1 per 1000. The change A<>E is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs17844350 PCDHA1 protocadherin alpha 1 - intron ('bu') 'GT' MAF = 0.00868 The 1000 Genome Project gives 8 per 1000. ---------------------------------------------------------------------------------------------------------------- rs17878697 Intergenic - ('mb') 'CT' MAF = 0.00228 The 1000 Genome Project gives 2 per 1000. ---------------------------------------------------------------------------------------------------------------- rs17882513 THBS4 thrombospondin 4 - synonymous L141L ('cd') 'AG' MAF = 0.00182 Appears 7 per 1000 worldwide. ---------------------------------------------------------------------------------------------------------------- rs28362591 RAB24 RAB24, member RAS oncogene family - nearGene-5 ('i') 'CT' MAF = 0.00685 Maybe 1% in Europe. ---------------------------------------------------------------------------------------------------------------- rs28363172 SLC6A3 solute carrier family 6 (neurotransmitter transporter, dopamine) - UTR-3 ('ng') 'CT' MAF = 0.00137. The 1000 Genome Project gvies 1 per 1000. ---------------------------------------------------------------------------------------------------------------- rs28363488 CTNNA1 catenin (cadherin-associated protein), alpha 1 - synonymous A671A ('bb') 'AG' MAF = 0.00319 Appears about 1% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs28383481 SLC22A5 solute carrier family 22 - missense R488H ('i','eb') 'AG' MAF = 0.00365 Appears 1% worldwide. The change R<>H is fairly uncommon, but the amino acids are similar. ---------------------------------------------------------------------------------------------------------------- rs28404158 B4GALT7 xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7 - intron ('gr') 'AC' MAF = 0.00731 Possibly 8% in Europe and less elsewhere. ---------------------------------------------------------------------------------------------------------------- rs28763954 FBN2 fibrillin 2 - missense P326N ('nk') 'AG' MAF = 0.00319. Appears about 1% worldwide. ('ch') 'AA' 'RARE' The change P<>N is uncommmon and this SNP could be significant. See: http://en.wikipedia.org/wiki/Congenital_contractural_arachnodactyly ---------------------------------------------------------------------------------------------------------------- rs28903085 RAD50 RAD50 homolog (S. cerevisiae) - missense I94L ('mu') 'AC' MAF = 0.00365 Appears 2% in Europe. The change I<>L is common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs34006513 Intergenic - ('th') 'AG' MAF = 0.00639 Appears up to 5% in Italy. ---------------------------------------------------------------------------------------------------------------- rs34116730 Intergenic - ('eb') 'AG' MAF = 0.00137 No population data. ---------------------------------------------------------------------------------------------------------------- rs34203073 AGGF1 angiogenic factor with G patch and FHA domains 1 - missense E133K ('kr','eb') 'AG' MAF = 0.00731 Maybe 3% worldwide. The change E<>K is uncommon and may be significant when homozygous. ---------------------------------------------------------------------------------------------------------------- rs34255532 FLT4 fms-related tyrosine kinase 4 - missense P954S ('ss') 'AG' MAF = 0.00999 The change P<>S is fairly common and unlikley to be significant. ---------------------------------------------------------------------------------------------------------------- rs34282994 IK IK cytokine, down-regulator of HLA II - missense K310R ('ly') 'AG' MAF = 0.00548. The 1000 Genome Project gives 5 per 1000. The change K<>R is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs34353925 Intergenic - ('ab') 'CT' MAF = 0.00365 The 1000 genome Project gives 3 per 1000. ---------------------------------------------------------------------------------------------------------------- rs34457927 Intergenic - ('gh') 'CT' MAF = 0.00731 The 1000 Genome Project gives 7 per 1000. ---------------------------------------------------------------------------------------------------------------- rs34595252 WDR36 WD repeat domain 36 - missense D658G ('jp') 'AG' MAF = 0.00700. The 1000 Genome Project gives 7 per 1000. The change D<>G is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs35629723 WDR36 WD repeat domain 36 - missense D33E ('nl') 'CG' MAF = 0.00274 The 1000 Genome Project gives 2 per 1000. The change D<>E is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs35703638 WDR36 WD repeat domain 36 - missense A449T ('st') 'AG' MAF = 0.00300. The 1000 Genome Project gives 3 per 1000. The change A<>T is common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs36105360 LMNB1 lamin B1 - missense A501V ('jn') 'CT' MAF = 0.00914. Appears about 3% worldwide. The change A<>V is common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs36119840 GDNF glial cell derived neurotrophic factor - missense R67W ('ut') 'AG' MAF = 0.00091 Possibly 1% in Europe and less elsewhere. The change R<>W is rare and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs41295717 HSPA9 heat shock 70kDa protein 9 (mortalin) - synonymous Q298Q ('nc') 'CT' MAF = 0.00182. Appears 1% worldwide, higher in Hispanic areas. ---------------------------------------------------------------------------------------------------------------- rs56180593 TCOF1 Treacher Collins-Franceschetti syndrome 1 - missense A41V ('an') 'CT' MAF = 0.00091 The 1000 genome Project gives 1 per 1100. The change A<>V is common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs61726489 LMNB1 lamin B1 - synonymous S74S ('bk') 'CT' MAF = 0.00300 The 1000 Genome Project gives 3 per 1000. ---------------------------------------------------------------------------------------------------------------- rs62364016 APC adenomatous polyposis coli - intron ('b','k') 'GT' MAF = 0.00999 No population data. ---------------------------------------------------------------------------------------------------------------- rs62376783 WDR36 WD repeat domain 36 - missense A163V (2) ('jc') 'CT' MAF = 0.00045 An uncommon SNP. The change A<>V is common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs62638196 GRM6 glutamate receptor, metabotropic 6 - missense R28H ('si') 'CT' MAF = 0.00999 No population data. The change R<>H is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs62638202 GRM6 glutamate receptor, metabotropic 6 - missense G150S ('c5') 'CT' MAF = 0.00999 An uncommon SNP. The change G<>S is uncommon and the homozygous form could be significant. Has been associated with Night Blindness. See: http://omim.org/entry/604096#0004 ---------------------------------------------------------------------------------------------------------------- rs62638207 GRM6 glutamate receptor, metabotropic 6 - missense I245V (1) ('nn') 'CT' MAF = 0.00100. The 1000 Genome Project gives 1 per 1000. The change I<>V is common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs62638620 GRM6 glutamate receptor, metabotropic 6 - synonymous A651A ('wv') 'AG' MAF = 0.00365. Appears about 1% worldwide. ---------------------------------------------------------------------------------------------------------------- rs62638623 GRM6 glutamate receptor, metabotropic 6 - missense L698V ('ma','gn') 'CG' MAF = 0.00600 Appears 1% worldwide. The change L<>V is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs62642053 GRM6 glutamate receptor, metabotropic 6 - missense A7T ('tk') 'CT' MAF = 0.00999 Possibly 1% in Europe. The change A<>T is common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs66964065 APC adenomatous polyposis coli - intron ('b','ut') 'AG' MAF = 0.00999 No population data. ---------------------------------------------------------------------------------------------------------------- rs72541816 APC adenomatous polyposis coli - missense S2621C ('bn') 'CG' MAF = 0.00411 Appears 5 per 1000 worldwide. The change S<>C is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs72552726 SLC22A5 solute carrier family 22 (organic cation/carnitine transporter) - missense R83L ('ao') 'GT' MAF = 0.00999 An uncommon SNP. The change R<>L is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- ----------------------------------------------------------------------------------------------------------------