Chromosome 12
Chromosome 11 << >> Chromosome 13Back
---------------------------------------------------------------------------------------------------------------- Summary of data - 'Chromosome 12a rs11063263 - rs2717434' No data = 0 Rare SNPs = 131 Minor Allele Frequency >0 and <0.01 = 844 Minor Allele Frequency >=0.01 and <0.02 = 557 Minor Allele Frequency >=0.02 and <0.03 = 573 Minor Allele Frequency >=0.03 and <0.05 = 1135 Minor Allele Frequency >=0.05 and <0.5 = 21731 Total of SNPs = 24971 There are also 227 i-SNPs for which there is no data --------------------------------------------------------------------------------------------------------------- Summary of data - 'Chromosome '12b rs7989171-rs17067959' No data = 0 Rare SNPs = 84 Minor Allele Frequency >0 and <0.01 = 483 Minor Allele Frequency >=0.01 and <0.02 = 375 Minor Allele Frequency >=0.02 and <0.03 = 471 Minor Allele Frequency >=0.03 and <0.05 = 916 Minor Allele Frequency >=0.05 and <0.5 = 19398 Total of SNPs = 21727 There are also 131 i-SNPs for which there is no data ----------------------------------------------------------------------------------------------------------------
Example Reports:
---------------------------------------------------------------------------------------------------------------- ---------------------------------------------------------------------------------------------------------------- Person:- 'b' (email withheld) <0.01: rs34230288 at Chr12:5973355 gave 'AC' The minor allele is 'A' with a MAF = 0.00868. rs2306852 at Chr12:26980807 gave 'AG' The minor allele is 'G' with a MAF = 0.00502 rs11564181 at Chr12:38959806 gave 'AT' The minor allele is 'A' with a MAF = 0.00914 Person:- 'k' (email withheld) <0.01: rs10492162 at Chr12:9555619 gave 'AG' The minor allele is 'A' with a MAF = 0.00091 rs11065126 at Chr12:119365090 gave 'AG' The minor allele is 'A' with a MAF = 0.00639 Person:- 'i' (email withheld) <0.01: rs28360457 at Chr12:120097612 gave 'AG' The minor allele is 'A' with a MAF = 0.00365 rs12368829 at Chr12:93326073 gave 'AG' The minor allele is 'G' with a MAF = 0.00776 ---------------------------------------------------------------------------------------------------------------- ----------------------------------------------------------------------------------------------------------------Submitted RS details for the <0.01 results:
rs number gene details type ---------------------------------------------------------------------------------------------------------------- ---------------------------------------------------------------------------------------------------------------- rs9540 ATP2A2 ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 - UTR-3 ('lw') 'CT' MAF = 0.00548 Appears 1% in Europe. ---------------------------------------------------------------------------------------------------------------- rs534564 TAOK3 TAO kinase 3 - intron ('au') 'AC' MAF = 0.00776. Appears 4% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs547185 SUDS3 suppressor of defective silencing 3 homolog (S. cerevisiae) - intron ('ld') 'CT' MAF = 0.00685. Appears 10% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs887781 A2ML1 alpha-2-macroglobulin-like 1 - intron ('dd') 'CT' MAF = 0.00639 Appears 11% in Africa, 2% in Asia and absent from Europe. ---------------------------------------------------------------------------------------------------------------- rs1007055 Intergenic - ('wv') 'AG' MAF = 0.00411 Uncommon, The 1000 Genome Project gives 4 per 1000. ---------------------------------------------------------------------------------------------------------------- rs1056784 MMP19 matrix metallopeptidase 19 - missense P245S ('st') 'AG' MAF = 0.00822 Appears 1% worldwide. The change P<>S is common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs1274497 Intergenic - ('st') 'CT' MAF = 0.00594 Possibly 8% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs1472115 LRRK2 leucine-rich repeat kinase 2 - nearGene-5 ('nj') 'GT' MAF = 0.00594. Appears 3% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs1696449 Intergenic - ('ti') 'GT' MAF = 0.00914 Appears 9% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs1801145 PAH phenylalanine hydroxylase - synonymous G10G ('cy') 'CG' MAF = 0.00000 An uncommon SNP. ---------------------------------------------------------------------------------------------------------------- rs1801152 PAH phenylalanine hydroxylase - synonymous Y414Y ('ch') 'AG' MAF = 0.00502. Appears about 1% worldwide. ---------------------------------------------------------------------------------------------------------------- rs1805503 GRIN2B glutamate receptor, ionotropic, N-methyl D-aspartate 2B - UTR-3 ('nj') 'GT' MAF = 0.00822 Appears about 4% in Europe, higher in Italy. ---------------------------------------------------------------------------------------------------------------- rs2037396 Unknown function - ('pa') 'CT' MAF = 0.00950 Poor data. Appears uncommon in Europe. Higher eslewhere. ---------------------------------------------------------------------------------------------------------------- rs2054515 KIF5A kinesin family member 5A - intron ('cm') 'AG' MAF = 0.00594. Appears about 7% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs2066813 STAT2 signal transducer and activator of transcription 2 - UTR-5 ('gg') 'CT' MAF = 0.00900. Appears about 1% everywhere. ---------------------------------------------------------------------------------------------------------------- rs2229363 STAT2 signal transducer and activator of transcription 2, 113kDa - missense Q826H (3) ('mq') 'AC' MAF = 0.00457. Appears 2% in Europe and Asia, and 1% in Africa. The change Q<>H is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs2231696 CPSF6 cleavage and polyadenylation specific factor 6, 68kDa - intron ('f0') 'AG' MAF = 0.00685 Appears 2% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs2272134 PSMD9 proteasome (prosome, macropain) 26S subunit, non-ATPase, 9 - UTR-3 ('sy') 'CT' MAF = 0.00228 Appears 5% in Asia, and less elsewhere. ---------------------------------------------------------------------------------------------------------------- rs2287626 ABCC9 ATP-binding cassette, sub-family C (CFTR/MRP), member 9 - synonymous L1119L (3) ('gg') 'CT' MAF = 0.00319. Appears 4% in Asia and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs2291550 ABCC9 ATP-binding cassette, sub-family C (CFTR/MRP), member 9 - synonymous D954D ('jy') 'AG' MAF = 0.00274. Appears 2% in Asia and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs2306852 FGFR1OP2 FGFR1 oncogene partner 2 - missense M66T ('b') 'AG' MAF = 0.00502 Appears to be 2% in Europe and Asia, absent in Africa The change M<>T is common, so not usually harmful. ---------------------------------------------------------------------------------------------------------------- rs2450993 Intergenic - ('ss') 'AC' MAF = 0.00822. Possibly 2% in Europe. ---------------------------------------------------------------------------------------------------------------- rs2619057 NAV3 neuron navigator 3 - intron ('sj') 'CT' MAF = 0.00914 Appears 11% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs2641525 Intergenic - ('na') 'CT' MAF = 0.00868. The 1000 Genome Project gives 8 per 1000. ---------------------------------------------------------------------------------------------------------------- rs2695781 PAN2 PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) - intron ('st') 'AG' MAF = 0.00868 Possibly 6% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs3024983 STAT6 signal transducer and activator of transcription 6 - UTR-3 ('jw') 'CT' MAF = 0.00365. Possibly 2% in Europe and less elsewhere. ---------------------------------------------------------------------------------------------------------------- rs3024984 STAT6 signal transducer and activator of transcription 6 - nearGene-3 ('jd') 'CG' MAF = 0.00137 Appears 5% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs3026434 ATP2A2 ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 - synonymous E27E ('br') 'AG' MAF = 0.00639 Appears about 1% worldwide. ---------------------------------------------------------------------------------------------------------------- rs3730204 IGF1 insulin-like growth factor 1 (somatomedin C) - UTR-3 ('ta') 'AG' MAF = 0.00731. Appears 6% in Europe and less elsewhere. ---------------------------------------------------------------------------------------------------------------- rs3764873 SCNN1A sodium channel, non-voltage-gated 1 alpha subunit - synonymous S495S ('dc') 'AC' MAF = 0.00594. Appears 10% in Asia and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs3764889 TSPAN9 tetraspanin 9 - intron ('sy') 'CT' MAF = 0.00411. Appears 8% in Asia, 1% in Europe and absent from Africa. ---------------------------------------------------------------------------------------------------------------- rs3794277 STK38L serine/threonine kinase 38 like - UTR-3 ('sy') 'GT' MAF = 0.00228 Appears 2% in Asia and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs3803002 ABCB9 ATP-binding cassette, sub-family B (MDR/TAP), member 9 - missense V121M ('aa') 'CT' MAF = 0.00457. Appears 10% in Asia and 1% in Europe. The change V<>M is common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs4132450 MFAP5 microfibrillar associated protein 5 - synonymous S2S ('nl') 'CT' MAF = 0.00045 The 1000 Genomo Project gives 1 per 2250. ---------------------------------------------------------------------------------------------------------------- rs4149584 TNFRSF1A tumor necrosis factor receptor superfamily, member 1A - missense R121Q ('wv') 'CT' MAF = 0.00999 Appears 7% in Europe and absent elsewhere. The change R<>Q is uncommon and the homozygous form could be significant. Perhaps see: http://www.ncbi.nlm.nih.gov/pubmed/20430450 ---------------------------------------------------------------------------------------------------------------- rs4508253 SLCO1A2 solute carrier organic anion transporter family - intron ('lw') 'CT' MAF = 0.00731 Appears 4% in Asia and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs4763861 GPR19 G protein-coupled receptor 19 - synonymous P215P ('jt') 'AG' MAF = 0.00228 Maybe up to 2% in Europe, absent elsewhere. ('ta') 'AA' ---------------------------------------------------------------------------------------------------------------- rs4767878 GCN1L1 GCN1 general control of amino-acid synthesis 1-like 1 (yeast) - nearGene-3 ('gn') 'AG' MAF = 0.00822 Appears 8% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs4882768 TMEM132C transmembrane protein 132C - intron ('cm') 'CT' MAF = 0.00776 Appears 6% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs4963956 BHLHE41 basic helix-loop-helix family, member e41 - UTR-3 ('mr') 'CT' MAF = 0.00045 The 1000 Genome Project gives 1 per 2250. ---------------------------------------------------------------------------------------------------------------- rs5030857 PAH phenylalanine hydroxylase - missense A403V ('ne') 'AG' MAF = 0.00228. The 1000 Genome Project gives 2 per 1000. The change A<>V is common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs5030858 PAH phenylalanine hydroxylase - missense R408W (1) ('ek') 'AG' MAF = 0.00100. An uncommon SNP. The change R<>W is uncommon and the homozygous form could be significant. Associated with'Phenylketonuria'. See: http://omim.org/entry/612349#0002 ---------------------------------------------------------------------------------------------------------------- rs5745066 POLE polymerase (DNA directed), epsilon - missense E2140K ('mh') 'CT' MAF = 0.00822. Maybe 1% in Europe and a little less elsewhere. The change E<>K is uncommon (changes polarity), and could be significant. ---------------------------------------------------------------------------------------------------------------- rs5745068 POLE polymerase (DNA directed), epsilon - missense R2165H ('tk') 'CT' MAF = 0.00457. Appears about 1% worldwide. The R<>H is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs6416335 BRAP BRCA1 associated protein - UTR-3 ('rf') 'CT' MAF = 0.00685 Possibly 2% in Europe and Asia, but absent from Africa. ---------------------------------------------------------------------------------------------------------------- rs7137185 EPS8 epidermal growth factor receptor pathway substrate 8 - missense D761E ('dm') 'AC' MAF = 0.00319 Appears 1% in Europe and absent elsewhere. ('ds','en') 'CC' 'RARE' The change D<>E is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs7139140 Intergenic - ('bb') 'AC' MAF = 0.00502 Possibly 5% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs7309831 CPM carboxypeptidase M - missense V133I (1) ('mb') 'CT' MAF = 0.00868 Appears 8% in Africa and absent elsewhere. The change V<>I is common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs7313666 DNAH10 dynein, axonemal, heavy chain 10 - intron ('au') 'CT' MAF = 0.00731 Appears 10% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs7313899 OR6C4 olfactory receptor, family 6, subfamily C, member 4 - missense I37V ('kb') 'AG' MAF = 0.00685 Appears 8% in Europe and absent elsewhere. The change I<>V is common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs7315853 LRRK2 leucine-rich repeat kinase 2 - intron ('jp') 'AG' MAF = 0.00639 Appears 10% in Africa, 1% in Europe and absent from Asia. ---------------------------------------------------------------------------------------------------------------- rs7486079 SLCO1B1 solute carrier organic anion transporter family - intron ('al') 'AG' MAF = 0.00822 Appears 9% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs7954265 ZNF26 zinc finger protein 26 - intron ('fk') 'GT' MAF = 0.00400 Appear 17% in Africa, 1% in Europe and absent from Asia. ---------------------------------------------------------------------------------------------------------------- rs7959529 TMEM117 transmembrane protein 117 - intron ('c5') 'AG' MAF = 0.00457 Appears 5% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs7961818 SLCO1B3 solute carrier organic anion transporter family, member 1B3 - intron ('na') 'AG' MAF = 0.00685 Appears 3% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs7974649 LLPH LLP homolog, long-term synaptic facilitation (Aplysia) - nearGene-3 ('mh') 'CT' MAF = 0.00457 Maybe 9% Europe and Africa, absent in Asia. ---------------------------------------------------------------------------------------------------------------- rs7976335 TMEM132C transmembrane protein 132C - intron ('jt') 'AG' MAF = 0.00319 Maybe up to 5% in Italy, lower in Asia ---------------------------------------------------------------------------------------------------------------- rs8176350 CYP27B1 cytochrome P450, family 27, subfamily B, polypeptide 1 - UTR-3 ('en') 'CT' MAF = 0.00182. The 1000 genome Project gives 1 per 1000. ---------------------------------------------------------------------------------------------------------------- rs8179162 SELPLG selectin P ligand - UTR-3 ('ss','ut') 'AG' MAF = 0.00914. Possibly 4% in Europe. ('mk') 'AA' ---------------------------------------------------------------------------------------------------------------- rs8192434 CRY1 cryptochrome 1 (photolyase-like) - nearGene-5 ('or') 'CT' MAF = 0.00137. The 1000 Genome Project gives 1 per 1000. ---------------------------------------------------------------------------------------------------------------- rs8192441 CRY1 cryptochrome 1 (photolyase-like) - UTR-3 ('tu') 'GT' MAF = 0.00914. Possibly 3% in Europe. ---------------------------------------------------------------------------------------------------------------- rs9332898 MGST1 microsomal glutathione S-transferase 1 - intron ('th') 'CT' MAF = 0.00411 The 1000 Genome Project gives 4 per 1000. ---------------------------------------------------------------------------------------------------------------- rs9634057 TMEM132D transmembrane protein 132D - intron ('fk') 'AC' MAF = 0.00685 Appears 9% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs9788286 Intergenic - ('nh') 'AG' MAF = 0.00502 The 1000 Genome Project gives 5 per 1000 ---------------------------------------------------------------------------------------------------------------- rs10082778 UTP20 UTP20, small subunit (SSU) processome component, homolog (yeast) - missense L1882Q ('dh') 'AT' MAF = 0.00548 Appears 3% in Europe and absent elewhere. The change L<>Q is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs10396213 SCARB1 scavenger receptor class B, member 1 - missense S229G ('kd') 'CT' MAF = 0.00000. Appears 2% in Asia and absent elsewhere. The change S<>G is fairly common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs10492162 OVOS ovostatin - intron ('k') 'AG' MAF = 0.00091 Appears to be 5-10% worldwide, ---------------------------------------------------------------------------------------------------------------- rs10734935 IL31 interleukin 31 - nearGene-3 ('j6') 'AC' MAF = 0.00319 The 1000 Genome Project gives 3 per 1000. ---------------------------------------------------------------------------------------------------------------- rs10840932 Intergenic - ('ut') 'CT' MAF = 0.00868 About 1% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs10849498 C12orf53 chromosome 12 open reading frame 53 - intron ('a') 'AG' MAF = 0.00950 Possibly 1% in Europe. ---------------------------------------------------------------------------------------------------------------- rs10850948 Intergenic - ('pc') 'CT' MAF = 0.00822 Possibly 1% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs11045848 SLCO1B1 solute carrier organic anion transporter family - intron ('al') 'CT' MAF = 0.00822 Appears 9% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs11045852 SLCO1B1 solute carrier organic anion transporter family - missense I245V ('al') 'AG' MAF = 0.00822 Appears 9% in Africa and absent elsewhere. The change I<>V is common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs11045854 SLCO1B1 solute carrier organic anion transporter family, member 1B1 - synonymous L294L ('eb') 'AG' MAF = 0.00822 Appears 2% worldwide, up to 10% in Africa. ---------------------------------------------------------------------------------------------------------------- rs11045857 SLCO1B1 solute carrier organic anion transporter family, member 1B1 - intron ('dh') 'CT' MAF = 0.00822 Appears 9% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs11049195 Intergenic - ('jt') 'AC' MAF = 0.00822 Up to 8% in Europe, lower elsewhere. ---------------------------------------------------------------------------------------------------------------- rs11055389 C12orf36 chromosome 12 open reading frame 36 - ncRNA ('en') 'AG' MAF = 0.00914 Appears 3% worldwide. ---------------------------------------------------------------------------------------------------------------- rs11065126 Intergenic - ('k') 'AG' MAF = 0.00639 Appears 3% in Europe, absent elsewhere. A European SNP. ---------------------------------------------------------------------------------------------------------------- rs11065690 HVCN1 hydrogen voltage-gated channel 1 - intron ('vk') 'AG' MAF = 0.00228 Appears 1% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs11114604 Intergenic - ('mb') 'GT' MAF = 0.00776 Appears 11% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs11116190 Intergenic - ('mh') 'AG' MAF = 0.00914 maybe 1% in Europe, absent elsewhere. A European SNP. ---------------------------------------------------------------------------------------------------------------- rs11168868 LOC100288366 uncharacterized LOC100288366 - intron ('eb') 'CT' MAF = 0.00868 Possilby 6% in Europe and lower elsewhere. ---------------------------------------------------------------------------------------------------------------- rs11169088 FAM186B family with sequence similarity 186, member B - ncRNA ('nc') 'AG' MAF = 0.00319 Appears 2% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs11465742 IL23A interleukin 23, alpha subunit p19 - nearGene-5 ('si') 'AG' MAF = 0.00228 Appears 1% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs11540149 VDR vitamin D (1,25- dihydroxyvitamin D3) receptor - UTR-3 ('di') 'CT' MAF = 0.00594. The 1000 Genome Project gives 5 per 1000. ---------------------------------------------------------------------------------------------------------------- rs11541440 GPN3 GPN-loop GTPase 3 - synonymous D89D ('jw') 'AG' MAF = 0.00411 Possibly 6% in Europe and less elsewhere. ---------------------------------------------------------------------------------------------------------------- rs11564105 MUC19 mucin 19, oligomeric - nearGene-5 ('jp') 'AG' MAF = 0.00639 Appears 10% in Africa, 1% in Europe and absent from Asia. ---------------------------------------------------------------------------------------------------------------- rs11564174 LRRK2 leucine-rich repeat kinase 2 - intron ('jp') 'AG' MAF = 0.00639 Appears 10% in Africa, 1% in Europe and absent from Asia. ---------------------------------------------------------------------------------------------------------------- rs11564181 LRRK2 leucine-rich repeat kinase 2 - intron ('b') 'AT' MAF = 0.00914 Maybe 6% in Europe, absent eslwhere. A European SNP. ---------------------------------------------------------------------------------------------------------------- rs11564257 MUC19 mucin 19, oligomeric - intron ('jp') 'GT' MAF = 0.00639 Appears 7% in Africa, 1% in Europe and absent from Asia. ---------------------------------------------------------------------------------------------------------------- rs11564260 MUC19 mucin 19, oligomeric - nearGene-5 ('gm') 'CT' MAF = 0.00228 Appears 3% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs11572951 GTF2H3 general transcription factor IIH, polypeptide 3, 34kDa - intron ('ju') 'GT' MAF = 0.00365 Appears 2% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs11574040 VDR vitamin D (1,25- dihydroxyvitamin D3) receptor - intron ('cm') 'AG' MAF = 0.00045. Possibly 2% worldwide. ---------------------------------------------------------------------------------------------------------------- rs11574134 VDR vitamin D (1,25- dihydroxyvitamin D3) receptor - UTR-3 ('ng') 'GT' MAF = 0.00045. The 1000 Genome Project gives 4 per 1000. ---------------------------------------------------------------------------------------------------------------- rs11609759 ZNF10 zinc finger protein 10 - intron ('eb') 'CT' MAF = 0.00822 Possibly 8% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs11611023 UHRF1BP1L UHRF1 binding protein 1-like - intron ('ds') 'CT' MAF = 0.00731 Possibly 4% in Europe. ---------------------------------------------------------------------------------------------------------------- rs11614777 ANKRD52 ankyrin repeat domain 52 - UTR-3 ('wv') 'AC' MAF = 0.00228 Appears 1% in Europe. ---------------------------------------------------------------------------------------------------------------- rs11830522 DNAH10 dynein, axonemal, heavy chain 10 - intron ('bb') 'CT' MAF = 0.00868 The 1000 Genome Project gives 8 per 1000. ---------------------------------------------------------------------------------------------------------------- rs11834179 PCBP2 poly(rC) binding protein 2 - intron ('en') 'AC' MAF = 0.00959 Possibly 12% in Africa, and uncommon in Europe. ---------------------------------------------------------------------------------------------------------------- rs11836757 TMEM132D transmembrane protein 132D - intron ('bb') 'AG' MAF = 0.00914 Appears 11% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs12227879 PARPBP PARP1 binding protein - missense V400M ('wh') 'AG' MAF = 0.00548 Possibly 10% in Asia, 1% in Europe and absent from Africa. The change V<>M is common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs12298635 ACACB acetyl-CoA carboxylase beta - intron ('cy') 'CT' MAF = 0.00822 Appears 10% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs12299008 Intergenic - ('na') 'AG' MAF = 0.00776 Appears 8% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs12301796 SLCO1B1 solute carrier organic anion transporter family - intron ('al') 'CT' MAF = 0.00822 Appears 12% in Africa, 3% in Asia and absent from Europe. ---------------------------------------------------------------------------------------------------------------- rs12302334 OGFOD2 2-oxoglutarate and iron-dependent oxygenase domain containing 2 -intron ('s9') 'AG' MAF = 0.00685 The 1000 Genome Project gives 6 per 1000. ---------------------------------------------------------------------------------------------------------------- rs12303713 SLCO1B1 solute carrier organic anion transporter family - intron ('al') 'CG' MAF = 0.00822 Appears 9% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs12304591 Intergenic - ('nl') 'CT' MAF = 0.00999 An uncommon SNP. ---------------------------------------------------------------------------------------------------------------- rs12310216 SLCO1B1 solute carrier organic anion transporter family -intron ('al') 'AG' MAF = 0.00822 Appears 9% in Africa, 2% in Asia and absent from Europe. ---------------------------------------------------------------------------------------------------------------- rs12310977 SLCO1B1 solute carrier organic anion transporter family - intron ('al') 'CT' MAF = 0.00822 Appears 9% in Africa, 4% in Europe and 2% in Asia. ---------------------------------------------------------------------------------------------------------------- rs12312746 SLCO1B1 solute carrier organic anion transporter family - intron ('al') 'GT' MAF = 0.00822 Appears 9% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs12315121 Intergenic - ('kd') 'CT' MAF = 0.00999 Possibly 1% in Asia. ---------------------------------------------------------------------------------------------------------------- rs12315627 SLCO1B1 solute carrier organic anion transporter family - intron ('al') 'AC' MAF = 0.00822 Appears 9% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs12318652 SLCO1B1 solute carrier organic anion transporter family - intron ('al') 'CT' MAF = 0.00822 Appears 9% in Africa, 2% in Asia and absent from Europe. ---------------------------------------------------------------------------------------------------------------- rs12368829 CCDC41 coiled-coil domain containing 41 - intron ('i') 'AG' MAF = 0.00776 Up to about 10% in Europe, and absent elsewhere. A European SNP. ---------------------------------------------------------------------------------------------------------------- rs12369637 BICD1 bicaudal D homolog 1 (Drosophila) - synonymous ('a') 'CT' MAF = 0.00959 Europe and Asia 1-2%, maybe absent in Africa. ---------------------------------------------------------------------------------------------------------------- rs12371215 IFT81 intraflagellar transport 81 homolog (Chlamydomonas) - nearGene-5 ('vk') 'GT' MAF = 0.00228 The 1000 Genome Project gives 2 per 1000. ---------------------------------------------------------------------------------------------------------------- rs12371512 LRRC43 leucine rich repeat containing 43 - intron ('ac') 'CT' MAF = 0.00548 Appears 7% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs12422550 PWP1 PWP1 homolog (S. cerevisiae) - nearGene-5 ('q4') 'AG' MAF = 0.00900 The 1000 Genome Project gives 9 per 1000. ---------------------------------------------------------------------------------------------------------------- rs12423375 PXN paxillin - UTR-3 ('lw') 'GT' MAF = 0.00639 Appears 1% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs12721365 VDR vitamin D (1,25- dihydroxyvitamin D3) receptor - synonymous A353A ('cd') 'AG' MAF = 0.00200. Appears about 5 per 1000 worldwide. ---------------------------------------------------------------------------------------------------------------- rs12811983 VPS37B vacuolar protein sorting 37 homolog B (S. cerevisiae) - intron ('ut') 'CT' MAF = 0.00685 Appears about 8% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs12817914 NAV3 neuron navigator 3 - intron ('nj') 'CT' MAF = 0.00639 Appears 5% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs12820524 SLCO1A2 solute carrier organic anion transporter family - intron ('rr') 'CT' MAF = 0.00822 Appears 6% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs17038934 CRY1 cryptochrome 1 (photolyase-like) - intron ('si') 'CT' MAF = 0.00776 Possibly 1% in Europe. ---------------------------------------------------------------------------------------------------------------- rs17188964 FAM216A family with sequence similarity 216, member A - missense R225G ('ph') 'AG' MAF = 0.00639. Appears 3% in Europe and absent elsewhere. The change R<>G is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs17198118 MCRS1 microspherule protein 1 - intron ('tg') 'GT' MAF = 0.00685 Appears 8% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs17218950 TCP11L2 t-complex 11 (mouse)-like 2 - missense D261N ('jt') 'AG' MAF = 0.00685 Appears 1-2% in Europe and Asia, absent in Africa. The change D<>N is reasonably common, and presumably not normally harmful. ---------------------------------------------------------------------------------------------------------------- rs17225146 Intergenic - ('rz') 'AG' MAF = 0.00502 Appears 1% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs17271583 PLEKHA5 pleckstrin homology domain containing, family A member 5 - intron ('ut') 'AG' MAF = 0.00914 Appears 11% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs17374606 BCAT1 branched chain amino-acid transaminase 1, cytosolic - synonymous T13T ('ng') 'AG' MAF = 0.00685 Possibly 2% in Europe. ---------------------------------------------------------------------------------------------------------------- rs17426613 MED13L mediator complex subunit 13-like - intron ('vs') 'CT' MAF = 0.00731 Appears 2% in Europe and absent elsewhere. ('za') 'CC' Uncommon. ---------------------------------------------------------------------------------------------------------------- rs17454674 B4GALNT1 beta-1,4-N-acetyl-galactosaminyl transferase 1 - missense A516V ('vp') 'AG' MAF = 0.00274 Appears 2% in Europe and absent elsewhere. The change A<>V is common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs17528736 RAB5B RAB5B, member RAS oncogene family - intron ('dm') 'CT' MAF = 0.00731 Appears 8% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs17541461 CNTN1 contactin 1 - intron ('lw') 'AC' MAF = 0.00822 Appears 6% in Europe and absent elsewhere. ('ag') 'AA' ---------------------------------------------------------------------------------------------------------------- rs17544455 Intergenic - ('jw') 'AC' MAF = 0.00365 Appears 2% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs17688672 KRT79 keratin 79 - missense H266R ('fc') 'CT' MAF = 0.00274 Appears 2% in Europe and absent elsewhere. The change H<>R is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs17722134 TPH2 tryptophan hydroxylase 2 - intron ('jl') 'AG' MAF = 0.00822 Appears 8% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs17725914 NCAPD2 non-SMC condensin I complex, subunit D2 - missense K580R ('mh') 'AG' MAF = 0.00900 Appears 1% in Europe, and absent elsewhere. The change K<>R is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs17813691 ZDHHC17 zinc finger, DHHC-type containing 17 - synonymous P46P ('eb') 'CT' MAF = 0.00731 Possibly 2% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs17884864 Intergenic - ('jd') 'AG' MAF = 0.00274. The 1000 Genome Project gives 2 per 1000. ---------------------------------------------------------------------------------------------------------------- rs28360457 P2RX7 purinergic receptor P2X, ligand-gated ion channel, 7 - missense R307Q ('i') 'AG' MAF = 0.00365 Appears to be 2% worldwide. The change R<>Q can be significant, so worthwhile watching this SNP. ---------------------------------------------------------------------------------------------------------------- rs28384801 WNT5B wingless-type MMTV integration site family, member 5B - nearGene-5 ('sy') 'AG' MAF = 0.00365 The 1000 Genome Project gives 3 per 1000. ---------------------------------------------------------------------------------------------------------------- rs28384806 WNT5B wingless-type MMTV integration site family, member 5B - intron ('mi') 'GT' MAF = 0.00045 The 1000 Genome Project gives 1 per 2500. ---------------------------------------------------------------------------------------------------------------- rs28390364 Intergenic - ('aw') 'AG' MAF = 0.00731 The 1000 Genome Project gives 7 per 1000. ---------------------------------------------------------------------------------------------------------------- rs28903073 LRRK2 leucine-rich repeat kinase 2 - intron ('ab') 'AG' MAF = 0.00182 The 1000 Genome Project gives just 1 per 1000. ---------------------------------------------------------------------------------------------------------------- rs28919870 FOXM1 forkhead box M1 - unknown ('eb') 'AG' MAF = 0.00594 Appears 1% worldwide. ---------------------------------------------------------------------------------------------------------------- rs28928909 MYF6 myogenic factor 6 (herculin) - missense A112S ('cm') 'GT' MAF = 0.00100 The 1000 Genome Project gives 1 per 1000. The change A<>S is uncommon and the homozygous form could be significant. For more about MYF6 see: http://omim.org/entry/159991#159991Variants0001 ---------------------------------------------------------------------------------------------------------------- rs28940875 ACADS acyl-CoA dehydrogenase, C-2 to C-3 short chain - missense R380W ('nd') 'CT' MAF = 0.00999 An uncommon SNP. The change R<>W is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs28990715 FOXM1 forkhead box M1 - missense A387E ('er') 'GT' MAF = 0.00959. Possibly 6% in Europe and less elsewhere. The change A<>E is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs33978901 VWF von Willebrand factor - missense R924Q ('jl') 'CT' MAF = 0.00914 Possibly 2% worldwide. ('bn') 'TT' The change R<>Q is uncommon and the homozygous form could be significant. Perhaps see discussion: http://omim.org/entry/613160#613160Variants0036 ---------------------------------------------------------------------------------------------------------------- rs33995883 LRRK2 leucine-rich repeat kinase 2 - missense N2081D ('tk') 'AG' MAF = 0.00914 Appears about 2% worldwide. The change N<>D is common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs34102859 SMARCC2 SWI/SNF related, matrix associated - UTR-3 ('cy') 'AG' MAF = 0.00045 The 1000 Genome Project gives 1 per 2250. ---------------------------------------------------------------------------------------------------------------- rs34229224 Intergenic - ('ch') 'AG' MAF = 0.00502 Possibly 5% in Europe and less elsewhere. ---------------------------------------------------------------------------------------------------------------- rs34230288 VWF von Willebrand factor - missense A2178S ('b') 'AC' MAF = 0.00868. Appears about 3% in Europe. ('bn') 'AA' The change A<>S is fairly uncommon and the homozygous form could be significant. Perhaps see discussion: http://omim.org/entry/613160#613160Variants0036 ---------------------------------------------------------------------------------------------------------------- rs34357477 NFE2 nuclear factor (erythroid-derived 2), 45kDa - UTR-3 ('na') 'CT' MAF = 0.00319. Appears 4% in Africa, 1% in Europe, but absent from Asia. ---------------------------------------------------------------------------------------------------------------- rs34436758 SNRNP35 small nuclear ribonucleoprotein 35kDa (U11/U12) - intron ('ut') 'AG' MAF = 0.00822 Appears 7% in Europe. ---------------------------------------------------------------------------------------------------------------- rs34475990 AVPR1A arginine vasopressin receptor 1A - UTR-3 ('za') 'AG' MAF = 0.00999 Possibly less than1% in Europe. ---------------------------------------------------------------------------------------------------------------- rs35055573 ORMDL2 ORM1-like 2 (S. cerevisiae) - intron ('jw') 'AG' MAF = 0.00091 Possibly about 1% in Europe. ---------------------------------------------------------------------------------------------------------------- rs35075600 ESYT1 extended synaptotagmin-like protein 1 - missense R764C ('dm') 'CT' The minor allele is 'T' with a MAF = 0.00685 The change R<>C is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs35303786 LRRK2 leucine-rich repeat kinase 2 - missense M1546T ('ro') 'CT' MAF = 0.00457 Appears 2% worldwide. The change M<>T is common and is unlikely to be significant. ('ch') 'CC' ---------------------------------------------------------------------------------------------------------------- rs35507033 LRRK2 leucine-rich repeat kinase 2 - missense R1514Q ('gb') 'AG' MAF = 0.00228 Appears about 1% worldwide. The change R<>Q is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs35676648 Intergenic - ('lp') 'AC' MAF = 0.00400 The 1000 genome Project gives 4 per 1000. ---------------------------------------------------------------------------------------------------------------- rs35847451 LRRK2 leucine-rich repeat kinase 2 - synonymous S461S ('tm') 'CT' MAF = 0.00999 openSNP suggest 1%. ---------------------------------------------------------------------------------------------------------------- rs36046440 ACAD10 acyl-CoA dehydrogenase family, member 10 - missense D494N ('tm') 'AG' MAF = 0.00411 The 1000 Genome Project gives 4 per 1000. The change D<>N is fairly common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs41276738 VWF von Willebrand factor - missense R854Q ('rp') 'CT' MAF = 0.00400 The 1000 Genome Project gives 4 per 1000. The change R<>Q is uncommon and the homozygous form could be significant. See perhaps: http://omim.org/entry/613160#0013 ---------------------------------------------------------------------------------------------------------------- rs41291971 PFKM phosphofructokinase, muscle - missense R696H ('db') 'AG' MAF = 0.00548 The 1000 Genome Project gives 5 per 1000. The change R<>H is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs58599399 PRPH peripherin - missense D141Y ('bb') 'GT' MAF = 0.00045 The 1000 Genome Project data gives 1 per 1000. The change D<>Y is rare and the homozygous form here could be significant. ---------------------------------------------------------------------------------------------------------------- rs58843120 ABCB9 ATP-binding cassette, sub-family B (MDR/TAP), member 9 - missense F92L ('lr') 'GT' MAF = 0.00319 Appears about 2% worldwide. The change F<>L is common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs59536457 KRT8 keratin 8 - missense I91V ('al') 'CT' MAF = 0.00182. The 1000 Genome Project gives 1 per 1000. The change I<>V is common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs61688134 ABCC9 ATP-binding cassette, sub-family C (CFTR/MRP), member 9 - missense V734I ('pg') 'CT' MAF = 0.00594 Appears 1% worldwide. The change V<>I is very common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs61750447 VWF von Willebrand factor - nearGene-5 ('er') 'AG' MAF = 0.00319. The 1000 Genome Project gives 3 per 1000. ---------------------------------------------------------------------------------------------------------------- rs61750601 VWF von Willebrand factor - intron ('jk') 'AG' MAF = 0.00319. The 1000 Genome Project gives 3 per 1000. ---------------------------------------------------------------------------------------------------------------- rs61750603 VWF von Willebrand factor - missense S1731T ('cc') 'AT' MAF = 0.00045 The 1000 Genome Project gives 1 per 2250. The change S<>T is fairly uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs61750604 VWF von Willebrand factor - missense V1760I ('ls') 'CT' MAF = 0.00091. Appears about 8 per 1000 worldwide. The change V<>I is common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs61750615 VWF von Willebrand factor - missense P2063S ('rz') 'AG' MAF = 0.00411. Appears 1-2% worldwide. The change P<>S is fairly common, so unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs61751302 VWF von Willebrand factor - missense T2647M ('ah') 'AG' MAF = 0.00319. The 1000 Genome Project gives 3 per 1000. The change T<>M is common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs61753992 VWF von Willebrand factor - missense D141N ('ig') 'CT' MAF = 0.00999 An uncommon SNP. The change D<>N is fairly common and is unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs62507341 PAH phenylalanine hydroxylase - intron ('ly') 'AC' MAF = 0.00999 An uncommon SNP. ---------------------------------------------------------------------------------------------------------------- rs62516096 PAH phenylalanine hydroxylase - deletion 'L364' 'DI' MAF = 0.00999 Uncommon SNP ('nr') 'DD' Possibly 1% in Europe. ---------------------------------------------------------------------------------------------------------------- rs62638188 RDH5 retinol dehydrogenase 5 (11-cis/9-cis) - synonymous G156G ('my') 'CT' MAF = 0.00999 An uncommon SNP. ---------------------------------------------------------------------------------------------------------------- rs62642936 PAH phenylalanine hydroxylase - missense L311P ('bn') 'AG' MAF = 0.00999 An uncommon SNP. The change L<>P is fairly common, but can be significant. Associated with Phenylketonuria See: http://omim.org/entry/612349#612349Variants0003 ---------------------------------------------------------------------------------------------------------------- rs62642939 PAH phenylalanine hydroxylase - missense R297H ('rr') 'CT' MAF = 0.00999 Uncommon. No further data. The change R<>H is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs72546327 LRRK2 leucine-rich repeat kinase 2 - missense T1410M ('c5') 'CT' MAF = 0.00548 The 1000 Genome Project gives 5 per 1000. The change T<>M is common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- ----------------------------------------------------------------------------------------------------------------