Chromosome 10
Chromosome 9 << >> Chromosome 11Back
---------------------------------------------------------------------------------------------------------------- Summary of data - 'Chromosome 10a rs11252127 - rs10997935' No data = 0 Rare SNPs = 54 Minor Allele Frequency >0 and <0.01 = 225 Minor Allele Frequency >=0.01 and <0.02 = 500 Minor Allele Frequency >=0.02 and <0.03 = 607 Minor Allele Frequency >=0.03 and <0.05 = 1167 Minor Allele Frequency >=0.05 and <0.5 = 22439 Total of SNPs = 24992 There are also 70 i-SNPs for which there is no data ---------------------------------------------------------------------------------------------------------------- Summary of data - 'Chromosome 10b rs10997936 - rs9645536' No data = 0 Rare SNPs = 118 Minor Allele Frequency >0 and <0.01 = 462 Minor Allele Frequency >=0.01 and <0.02 = 533 Minor Allele Frequency >=0.02 and <0.03 = 583 Minor Allele Frequency >=0.03 and <0.05 = 1128 Minor Allele Frequency >=0.05 and <0.5 = 22172 Total of SNPs = 24996 There are also 240 i-SNPs for which there is no data ----------------------------------------------------------------------------------------------------------------
Example Reports:
---------------------------------------------------------------------------------------------------------------- ---------------------------------------------------------------------------------------------------------------- Person:- 'i' (email withheld) <0.01: rs10904888 at Chr10:17229907 gave 'CT' The minor allele is 'T' with a MAF = 0.00914 rs11013759 at Chr10:24192195 gave 'CT' The minor allele is 'T' with a MAF = 0.00639 rs11591720 at Chr10:74854450 gave 'AG' The minor allele is 'G' with a MAF = 0.00776 rs1368660 at Chr10:132626740 gave 'AC' The minor allele is 'C' with a MAF = 0.00400 Person:- 'k' (email withheld) <0.01: ---------------------------------------------------------------------------------------------------------------- ----------------------------------------------------------------------------------------------------------------Submitted RS details for the <0.01 results:
rs number gene details type ---------------------------------------------------------------------------------------------------------------- ---------------------------------------------------------------------------------------------------------------- rs13134 ALOX5 arachidonate 5-lipoxygenase - UTR-3 ('mh') 'CT' MAF = 0.00776 Appears about 8 per 1000 worldwide. ---------------------------------------------------------------------------------------------------------------- rs284847 CYP17A1 cytochrome P450, family 17, subfamily A, polypeptide 1 - intron ('mh') 'AG' MAF = 0.00822 Maybe 5% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs523747 OPTN optineurin - missense E322Q ('st') 'AG' MAF = 0.00548 Appears 10% in Africa and absent elsewhere. The change E<>Q is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs730721 CHST3 carbohydrate (chondroitin 6) sulfotransferase 3 - UTR-3 ('gh') 'AG' MAF = 0.00000. Possibly 1% in Europe. ---------------------------------------------------------------------------------------------------------------- rs938035 Intergenic - ('mz') 'AG' MAF = 0.00822 Appears 10% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs1007915 Intergenic - ('bn') 'CT' MAF = 0.00457. Appears 4% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs1111335 Intergenic - ('c5') 'CT' MAF = 0.00594. Appears 3% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs1368660 Intergenic - ('i') 'AC' MAF = 0.00400 About 1% in Europe. ---------------------------------------------------------------------------------------------------------------- rs1536430 CYP2C8 cytochrome P450, family 2, subfamily C, polypeptide 8 - intron ('gb') 'CT' MAF = 0.00914 Possibly 1% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs1802932 ANXA11 annexin A11 - missense I457V ('ma','gn') 'CT' MAF = 0.00502. Appears about 1% worldwide. The change I<>V is common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs2027102 Intergenic - ('cd') 'CT' MAF = 0.00319 Possibly 5% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs2180707 Intergenic - ('en') 'CT' MAF = 0.00228 Appears 1% in Europe and Africa, absent from Asia. ('dk') 'TT' ---------------------------------------------------------------------------------------------------------------- rs2208481 Intergenic - ('ss') 'AG' MAF = 0.00685 Possibly 3% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs2227580 C10orf55 chromosome 10 open reading frame 55 - UTR-3 ('kd') 'GT' MAF = 0.00685 Appears 3% in Europe, 2% in Asia and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs2232662 CALHM2 calcium homeostasis modulator 2 - missense V194M ('gd') 'CT' MAF = 0.00274. Possibly 1% worldwide. The change is common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs2274887 Intergenic - ('mi') 'CT' MAF = 0.00822 Appears 3% in Asia and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs2293239 GDHL oxoglutarate dehydrogenase-like - missense N668S ('jy') 'CT' MAF = 0.00319. Appears 4% in Asia and absent elsewhere. The change N<>S is fairly common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs2306322 SPOCK2 sparc/osteonectin, cwcv and kazal-like domains proteoglycan - missense G353S ('gg') 'CT' MAF = 0.00502 Possibly 3% in Europe, and lower in Africa. The change G<>S is fairly common and this SNP is unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs2395527 Intergenic - ('rf') 'AG' MAF = 0.00400 Appears 30% in Africa, 1% in Europe and absent from Asia. ---------------------------------------------------------------------------------------------------------------- rs2782871 MKI67 antigen identified by monoclonal antibody Ki-67 - missense P1622L ('tg') 'AG' MAF = 0.00045. Appears 1% in Europe and absent elsewhere. The change P<>L is fairly uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs2813277 Intergenic - ('ar') 'AG' MAF = 0.00000. Possibly 42% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs3026770 RET ret proto-oncogene - intron ('gg') 'AG' MAF = 0.00548 Possibly 3% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs3134609 ANK3 ankyrin 3, node of Ranvier (ankyrin G) - synonymous V2161V ('mh') 'AG' MAF = 0.00228 Maybe 2% in Europe and lower in Asia. ---------------------------------------------------------------------------------------------------------------- rs3218620 FAS Fas (TNF receptor superfamily, member 6) - intron ('pc') 'CT' MAF = 0.00365 Possibly 5% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs3740296 RBP3 retinol binding protein 3, interstitial - missense R1236K ('sy') 'CT' MAF = 0.00274 Appears 8% in Asia, 1% in Africa and absent from Europe. The change R<>K in uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs3802669 ARID5B AT rich interactive domain 5B (MRF1-like) - UTR-3 ('jy') 'AG' MAF = 0.00685 Appears 3% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs3814216 NEURL neuralized homolog (Drosophila) - nearGene-5 ('mq') 'CT' MAF = 0.00731 Appears 8% in Africa, 2% in Asia and absent from Europe. ---------------------------------------------------------------------------------------------------------------- rs4148924 CHST3 carbohydrate (chondroitin 6) sulfotransferase 3 - intron ('gg') 'AG' MAF = 0.00822 Possibly 7% in Asia and 1% elsewhere. ---------------------------------------------------------------------------------------------------------------- rs4148942 CHST3 carbohydrate (chondroitin 6) sulfotransferase 3 - UTR-3 ('gg') 'CG' MAF = 0.00457 The 1000 Genome Project suggests 4 per 1000. ---------------------------------------------------------------------------------------------------------------- rs4237497 GFRA1 GDNF family receptor alpha 1 - intron ('mq') 'CT' MAF = 0.00868 Appears 8% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs4253047 ERCC6 excision repair cross-complementing rodent repair deficiency - missense G446A ('ch') 'CT' MAF = 0.00731. Apears almost 2% worldwide. The change G<>A is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs4362077 ABCC2 ATP-binding cassette, sub-family C (CFTR/MRP), member 2 - intron ('ng') 'CT' MAF = 0.00822 Appears 7% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs4747947 C10orf47 chromosome 10 open reading frame 47 - nearGene-5 ('mh') 'CT' MAF = 0.00959 Maybe 4% in Europe, and less elsewhere. ---------------------------------------------------------------------------------------------------------------- rs4918857 NRAP nebulin-related anchoring protein - missense L1684Q ('cm') 'AT' MAF = 0.00274 Appears about 1% worldwide, highest in Europe. The change L<>Q is fairly uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs4933986 LRIT1 leucine-rich repeat, immunoglobulin-like and transmembrane domains 1 - synonymous N296N ('rr') 'AG' MAF = 0.00685 Possibly 10% in Europe, 2% in Asia and absent from Africa. ---------------------------------------------------------------------------------------------------------------- rs5031019 CYP2C9 cytochrome P450, family 2, subfamily C, polypeptide 9 - synonymous T130T ('ig') 'GT' MAF = 0.00045 The 1000 Genome Project gives 1 per 2500 ---------------------------------------------------------------------------------------------------------------- rs7067625 ASAH2 N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2 - missense T51A ('en') 'CT' MAF = 0.00868 Appears 10% in Africa and absent elsewhere. The change T<>A is common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs7081272 Intergenic - ('me') 'AC' MAF = 0.00822 Appears 10% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs7085076 CUBN cubilin (intrinsic factor-cobalamin receptor) - UTR-3 ('gg') 'AG' MAF = 0.00959 Appears 4% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs7089607 Intergenic - ('ad') 'CT' MAF = 0.00776 Appears 8% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs7089855 IL2RA interleukin 2 receptor, alpha - intron ('be') 'AG' MAF = 0.00411 Possibly 50% in Africa and Asia, but 4% in Europe. ---------------------------------------------------------------------------------------------------------------- rs7899650 Intergenic - ('sm') 'AG' MAF = 0.00776 Appears 9% in Africa, 1% in Europe and absent from Asia. ---------------------------------------------------------------------------------------------------------------- rs7902219 Intergenic - ('gr') 'CT' MAF = 0.00776 Appears 8% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs7924144 Intergenic - ('cd') 'CT' MAF = 0.00639 Appears 10% in Africa, and under 1% elsewhere. ---------------------------------------------------------------------------------------------------------------- rs8177062 MAP3K8 mitogen-activated protein kinase kinase kinase 8 - synonymous S305S ('lw') 'AT' MAF = 0.00731 Appears 3% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs8177788 IL15RA interleukin 15 receptor, alpha - UTR-3 ('gm') 'CT' MAF = 0.00639. The 1000 Genome Project gives 6 per 1000. ---------------------------------------------------------------------------------------------------------------- rs8187709 ABCC2 ATP-binding cassette, sub-family C (CFTR/MRP), member 2 - synonymous N1509N ('j5') 'CT' MAF = 0.00000 Appears 2% in Asia, 1% in Africa and absent from Europe. ---------------------------------------------------------------------------------------------------------------- rs9332236 CYP2C9 cytochrome P450, family 2, subfamily C, polypeptide 9 - intron ('s9') 'AG' MAF = 0.00000 openSNP suggest about 1%. ---------------------------------------------------------------------------------------------------------------- rs9332237 CYP2C9 cytochrome P450, family 2, subfamily C, polypeptide 9 - intron ('s9') 'CT' MAF = 0.00000 openSNP suggest about 1%. ---------------------------------------------------------------------------------------------------------------- rs9332239 CYP2C9 cytochrome P450, family 2, subfamily C, polypeptide 9 - missense P489S ('nk') 'CT' MAF = 0.00137 The 1000 Genome Project gives 1 per 1000. The change P<>S is fairly common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs9332146 CYP2C9 cytochrome P450, family 2, subfamily C, polypeptide 9 - intron ('nl') 'AG' MAF = 0.00959 Appears 14% in Asia and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs9332243 CYP2C9 cytochrome P450, family 2, subfamily C, polypeptide 9 - UTR-3 ('sh') 'CT' MAF = 0.00457 The 1000 Genome Project gives 4 per 1000. ---------------------------------------------------------------------------------------------------------------- rs9332244 CYP2C9 cytochrome P450, family 2, subfamily C, polypeptide 9 - UTR-3 ('vs') 'AG' MAF = 0.00091 The 1000 Genome project gives 1 per 1100. ---------------------------------------------------------------------------------------------------------------- rs9333241 ITGA8 integrin, alpha 8 - missense I993V ('cl') 'CT' MAF = 0.00319. Appears 10% in Africa and absent elsewhere. The change I<>V is very common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs9415964 Intergenic - ('jt') 'AG' MAF = 0.00776 Maybe 5% in Europe, perhaps absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs9420702 LCOR ligand dependent nuclear receptor corepressor - intron ('kw') 'GT' MAF = 0.00914 Appears 13% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs9658682 FAS Fas (TNF receptor superfamily, member 6) - intron ('aa') 'AG' MAF = 0.00685 Appears 5% in Europe, 3% in Africa and absent from Asia. ---------------------------------------------------------------------------------------------------------------- rs9658771 FAS Fas (TNF receptor superfamily, member 6) - intron ('kr') 'AG' MAF = 0.00776 maybe 2% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs10508547 Intergenic - ('ss') 'AG' MAF = 0.00950 Poor population data. ---------------------------------------------------------------------------------------------------------------- rs10509995 NHLRC2 NHL repeat containing 2 - synonymous D560D (3) ('m5') 'CT' MAF = 0.00137 The 1000 Genome Project gives 1 per 1000. ---------------------------------------------------------------------------------------------------------------- rs10736070 EXOC6 exocyst complex component 6 - intron ('gn') 'GT' MAF = 0.00776 Appears 6% in Europe and absent elsewhere. ('ro') 'GG' ---------------------------------------------------------------------------------------------------------------- rs10749284 EIF3A eukaryotic translation initiation factor 3, subunit A - intron ('sy') 'CT' MAF = 0.00400 Appears 30% in Africa, 15% in Asia and 1% in Europe. ---------------------------------------------------------------------------------------------------------------- rs10904888 TRDMT1 tRNA aspartic acid methyltransferase 1 - UTR-3 ('i') 'CT' MAF = 0.00914 Maybe up to 9% in Europe and absent elsewhere, ---------------------------------------------------------------------------------------------------------------- rs10906632 FRMD4A FERM domain containing 4A - intron ('bn') 'CT' MAF = 0.00400 Appears 36% in Africa, 2% in Asia and 1% in Europe. ---------------------------------------------------------------------------------------------------------------- rs10994235 ANK3 ankyrin 3, node of Ranvier (ankyrin G) - intron ('cm') 'CT' MAF = 0.00500 Appears 1% in Europe & Asia, and very high in Africa. ---------------------------------------------------------------------------------------------------------------- rs10998381 TET1 tet methylcytosine dioxygenase 1 - intron ('sy') 'CT' MAF = 0.00548 Appears 5% in Asia and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs10999978 CDH23 cadherin-related 23 - synonymous G1503G ('sy') 'CT' MAF = 0.00900 Appears 37% in Asia, 15% in Africa and 1% in Europe. ('aa') 'TT' ---------------------------------------------------------------------------------------------------------------- rs11000515 P4HA1 prolyl 4-hydroxylase, alpha polypeptide I - intron ('lw') 'AC' MAF = 0.00914 Appears 16% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs11000718 Intergenic - ('gb') 'GT' MAF = 0.00822 Possibly 8% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs11011379 ZNF248 zinc finger protein 248 - missense K218E ('jt') 'CT' MAF = 0.00731 Maybe 3% in Europe and perhaps absent elsewhere. The change K<>E is very uncommon and may be special. ---------------------------------------------------------------------------------------------------------------- rs11013759 KIAA1217 - intron ('i') 'CT' MAF = 0.00639 Rare outside Africa. Appears to be an African SNP. ---------------------------------------------------------------------------------------------------------------- rs11015582 MASTL microtubule associated serine/threonine kinase-like - intron ('gb') 'AG' MAF = 0.00868 Possibly 10% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs11187246 EXOC6 exocyst complex component 6 - intron ('jw') 'AC' MAF = 0.00228 Appears 1% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs11188150 CYP2C8 cytochrome P450, family 2, subfamily C, polypeptide 8 - synonymous H283H ('cd') 'AG' MAF = 0.00091. Uncommon, possibly 3 per 1000 worldwide. ---------------------------------------------------------------------------------------------------------------- rs11188392 Intergenic - ('gg') 'CT' MAF = 0.00959 Possibly 9% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs11188439 Intergenic - ('gg') 'GT' MAF = 0.00822 Possibly 8% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs11188514 ENTPD1 ectonucleoside triphosphate diphosphohydrolase 1 - UTR-3 ('gg') 'CT' MAF = 0.00822 Possibly 9% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs11190778 SEMA4G sema domain, immunoglobulin domain (Ig) - nearGene-5 ('gd') 'CT' MAF = 0.00411 Appears 1% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs11191183 C10orf76 chromosome 10 open reading frame 76 - intron ('gg') 'AG' MAF = 0.00776. Possibly 5% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs11191279 NFKB2 nuclear factor of kappa light polypeptide gene enhancer - synonymous L747L ('eb') 'CT' MAF = 0.00319 Possibly 1% in Europe. ---------------------------------------------------------------------------------------------------------------- rs11196530 DCLRE1A DNA cross-link repair 1A - missense I859F ('jn') 'AT' MAF = 0.00137 Appears 1% in Europe and absent elsewhere. The change I<>F is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs11196689 AFAP1L2 actin filament associated protein 1-like 2 - missense G138R ('lr') 'CT' MAF = 0.00274 Appears 4 per 1000 worldwide. Highest in Asia. The change G<>R is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs11198240 RAB11FIP2 RAB11 family interacting protein 2 (class I) - intron ('bk') 'AG' MAF = 0.00594 Appears 13% in Europe, 2% in Asia and absent from Africa ---------------------------------------------------------------------------------------------------------------- rs11199654 Intergenic - ('tg') 'AG' MAF = 0.00776 Possibly 3% in Europe and less elsewhere. ---------------------------------------------------------------------------------------------------------------- rs11203068 IFIT3 interferon-induced protein with tetratricopeptide repeats 3 - nearGene-5 ('mi') 'AG' MAF = 0.00639 Possibly 4% in Asia. ---------------------------------------------------------------------------------------------------------------- rs11239373 LOC338579 ankyrin repeat domain-containing protein 30B pseudogene - intron ('bg') 'CT' MAF = 0.00731 Appears 3% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs11239604 FAM21C family with sequence similarity 21, member C - intron ('mj') 'AG' MAF = 0.00502 Possibly 8% in Europe and less elsewhere. ---------------------------------------------------------------------------------------------------------------- rs11259793 Intergenic - ('sm') 'AC' MAF = 0.00319 Appears 1% in Europe and absent elsewhere. --------------------------------------------------------------------------------------------------------------- rs11572070 CYP2C8 cytochrome P450, family 2, subfamily C, polypeptide 8 - intron ('hu') 'AG' MAF = 0.00639. Possibly 3% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs11572141 CYP2C8 cytochrome P450, family 2, subfamily C, polypeptide 8 - intron ('nk') 'CT' MAF = 0.00182. Appears 1% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs11572144 CYP2C8 cytochrome P450, family 2, subfamily C, polypeptide 8 - intron ('mj') 'AG' MAF = 0.00365. Appears 1% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs11575688 HABP2 hyaluronan binding protein 2 - missense E393Q ('lr') 'CG' MAF = 0.00457 Appears 5% in Europe and absent elsewhere. The change E<>Q is uncommon and hte homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs11591720 ZMYND17 zinc finger, MYND-type containing 17 - missense L417P ('i') 'AG' MAF = 0.00776 Maybe up to 5% in Europe and much less elsewhere. The change L<>P is fairly uncommon. But the results appears too common to be harmful. ---------------------------------------------------------------------------------------------------------------- rs11592891 Intergenic - ('ly') 'CT' MAF = 0.00822 Appears 6% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs11593253 FAM208B family with sequence similarity 208, member B - missense T1782I ('wh') 'CT' MAF = 0.00959 Appears 10% in Asia, 3% in Europe and absent from Africa. The change T<>I is common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs11595723 TACC2 transforming, acidic coiled-coil containing protein 2 - intron ('ly') 'AG' MAF = 0.00959 Appears 9% in Europe, 1% in Africa and absent from Asia. ---------------------------------------------------------------------------------------------------------------- rs11595838 Intergenic - ('af') 'CT' MAF = 0.00639 Appears 28% in Asia, 1% in Europe and absent from Africa. ---------------------------------------------------------------------------------------------------------------- rs11595907 CYP2C19 cytochrome P450, family 2, subfamily C, polypeptide 19 - intron ('ds') 'AG' MAF = 0.00045 The 1000 genome Project gives 1 per 2250. ---------------------------------------------------------------------------------------------------------------- rs11595941 ZNF503 zinc finger protein 503 - UTR-3 ('mb') 'GT' MAF = 0.00411 Appears 2% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs11596047 PTCHD3 patched domain containing 3 - nearGene-5 ('ch') 'AG' MAF = 0.00868 Appears 2% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs11597219 LOC100288974 BMS1 homolog, ribosome assembly protein (yeast) pseudogene - intron ('ac') 'CT' MAF = 0.00731 Appears 9% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs11597384 Intergenic - ('tg') 'CT' MAF = 0.00091 Possibly 1% in Europe and less elsewhere. ---------------------------------------------------------------------------------------------------------------- rs11814350 PPA1 pyrophosphatase (inorganic) 1 - nearGene-3 ('jo') 'CT' MAF = 0.00228 The 1000 Genome Project gives 2 per 1000 ---------------------------------------------------------------------------------------------------------------- rs12217419 ZEB1 zinc finger E-box binding homeobox 1 - missense G74R ('sy') 'AG' MAF = 0.00182 Possibly 1% in Asia and Europe, but absent from Africa. The change G<>R is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs12242036 INPP5A inositol polyphosphate-5-phosphatase, 40kDa - intron ('bb') 'CT' MAF = 0.00914 Appears up to 11% in Africa, much lower elsewhere. ---------------------------------------------------------------------------------------------------------------- rs12251835 FAM107B family with sequence similarity 107, member B - intron ('cl') 'CT' MAF = 0.00000 Appears 34% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs12267464 INPP5A inositol polyphosphate-5-phosphatase - intron ('bb') 'CT' MAF = 0.00868 Appears 10% in Africa, possibly absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs12355108 WDR11 WD repeat domain 11 - synonymous H514H ('tg') 'CT' MAF = 0.00776 Possibly 5% in Europe and less elsewhere. ---------------------------------------------------------------------------------------------------------------- rs12356269 ACBD5 acyl-CoA binding domain containing 5 - UTR-3 ('gb') 'CT' MAF = 0.00868 Possibly 5% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs12357104 RET ret proto-oncogene - intron ('lw') 'CT' MAF = 0.00639 Appears 3% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs12360259 PHYHIPL phytanoyl-CoA 2-hydroxylase interacting protein-like - nearGene-5 ('a1') 'CT' MAF = 0.00502 Appears 1% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs12413425 Intergenic - ('wv') 'GT' MAF = 0.00731 Appears 1% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs12720436 FAS Fas (TNF receptor superfamily, member 6) - intron ('jt') 'AG' MAF = 0.00685 maybe 2% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs12722603 IL2RA interleukin 2 receptor, alpha - UTR-3 ('ic') 'AG' MAF = 0.00045. The 1000 Genome Project gives 1 per 2250. ---------------------------------------------------------------------------------------------------------------- rs12763180 CYP2C19 cytochrome P450, family 2, subfamily C, polypeptide 19 - intron ('mw') 'GT' MAF = 0.00091 The 1000 Genome Project gives 1 per 1100. ---------------------------------------------------------------------------------------------------------------- rs16924882 DNAJC12 DnaJ (Hsp40) homolog, subfamily C, member 12 - UTR-3 ('ak') 'AG' MAF = 0.00868 Appears 9% in Africa, 8% in Asia and 5% in Europe. ---------------------------------------------------------------------------------------------------------------- rs16931095 Intergenic - ('za') 'CT' MAF = 0.00731 Appears 16% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs17105016 Intergenic - ('cd') 'AG' MAF = 0.00731 Possibly 10% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs17158558 RET ret proto-oncogene - missense R982C ('jt') 'CT' MAF = 0.00900 Just under 3% worldwide. The change R<>C is uncommon and may be special. ---------------------------------------------------------------------------------------------------------------- rs17173698 PAPSS2 3'-phosphoadenosine 5'-phosphosulfate synthase 2 - missense E10K ('gg') 'AG' MAF = 0.00685 Possibly 2% in Europe and absent elsewhere. The change E<>K is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs17216345 ABCC2 ATP-binding cassette, sub-family C (CFTR/MRP) - synonymous I1132I ('rf') 'CT' MAF = 0.00137 The 1000 Genome Project gives 1 per 1000. ---------------------------------------------------------------------------------------------------------------- rs17222561 ABCC2 ATP-binding cassette, sub-family C (CFTR/MRP), member 2 - missense K495E ('so') 'AG' MAF = 0.00274 The 1000 genome Project gives 2 per 1000. The change K<>E is very uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs17222596 ABCC2 ATP-binding cassette, sub-family C (CFTR/MRP) - synonymous K53K ('st') 'AG' MAF = 0.00365 Possibly 1% in Europe. ---------------------------------------------------------------------------------------------------------------- rs17449755 EXOC6 exocyst complex component 6 - intron ('hu') 'GT' MAF = 0.00274 Possibly 11% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs17556220 DDX21 DEAD (Asp-Glu-Ala-Asp) box helicase 21 - missense T27I ('rr') 'CT' MAF = 0.00685 Possibly 6% in Europe, 2% in Asia and absent from Africa. The change T<>I is common and is unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs17585356 BUB3 budding uninhibited by benzimidazoles 3 homolog (yeast) - intron ('tu') 'CT' MAF = 0.00914 Appears 5% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs17630626 EMX2OS EMX2 opposite strand/antisense RNA (non-protein coding) - intron ('rf') 'GT' MAF = 0.00868 Possibly 8% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs17646780 CHST3 carbohydrate (chondroitin 6) sulfotransferase 3 - intron ('gg') 'CT' MAF = 0.00822 Appears about 4% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs17711717 SFXN2 sideroflexin 2 - UTR-3 ('ss') 'CT' MAF = 0.00822 Possibly 5% in Europe and less elsewhere. ---------------------------------------------------------------------------------------------------------------- rs17875475 ADRB1 adrenergic, beta-1-, receptor - nearGene-5 ('gb') 'AG' MAF = 0.00137 The 1000 Genome Project gives 1 per 1000. ---------------------------------------------------------------------------------------------------------------- rs17881297 CXCL12 chemokine (C-X-C motif) ligand 12 - UTR-3 ('jr') 'AG' MAF = 0.00045. The 1000 Genome Project gives 1 per 2250. ---------------------------------------------------------------------------------------------------------------- rs17882687 CYP2C19 cytochrome P450, family 2, subfamily C, polypeptide 19 - missense I19L ('rm') 'AC' MAF = 0.00228 The 1000 Genome Project gives 2 per 1000. The change I<>L is fairly uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs17886301 CYP2C19 cytochrome P450, family 2, subfamily C, polypeptide 19 - nearGene-5 ('dh') 'CT' MAF = 0.00600 The 1000 genome Project gives 6 per 1000. ---------------------------------------------------------------------------------------------------------------- rs28381337 Intergenic - ('er') 'AC' MAF = 0.00685. Appears 1% in Europe, but higher in Asia and Africa. ---------------------------------------------------------------------------------------------------------------- rs28399504 CYP2C19 cytochrome P450, family 2, subfamily C, polypeptide 19 - missense M1V ('cd') 'AG' MAF = 0.00600 Appears to be about 4 per 1000 worldwide. The change M<>V here damages the start codon, so is possibly significant. This gene has been associated with 'clopidogrel' metabolism. ---------------------------------------------------------------------------------------------------------------- rs28933375 PRF1 perforin 1 (pore forming protein) - missense N252S ('ss') 'CT' MAF = 0.00639. Appears 1% worldwide. The change N<>S is fairly common and the amino acids are similar. But this gene has a suggested link to 'lymphoma'. ---------------------------------------------------------------------------------------------------------------- rs28937593 CHST3 carbohydrate (chondroitin 6) sulfotransferase 3 - missense R304Q ('dw') 'AG' MAF = 0.00999 An uncommon SNP. The R<>Q is uncommon and the homozygous form could be significant. Associated with Spondyloepiphyseal dysplasia, see: http://omim.org/entry/603799#0001 ---------------------------------------------------------------------------------------------------------------- rs34042134 HPS1 Hermansky-Pudlak syndrome 1 - intron ('cd') 'CT' MAF = 0.00776 Possibly 40% in Africa and about 3% in Europe. ('gn','st') 'CC' Uncommon in Europe. ---------------------------------------------------------------------------------------------------------------- rs35077384 ZFYVE27 zinc finger, FYVE domain containing 27 - missense G191V ('j5') 'GT' MAF = 0.00800. Appears 1% worldwide. The change G<>V is uncommon and the homozygous form could be significant. Mentioned in older references, but everything appears unproven. ---------------------------------------------------------------------------------------------------------------- rs35077384 ZFYVE27 zinc finger, FYVE domain containing 27 - missense G73V ('za') 'GT' MAF = 0.00800. Appears 6% worldwide, lower in Europe. The change G<>V is very uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs35230616 ADRB1 adrenergic, beta-1-, receptor - missense R178Q ('as') 'AG' MAF = 0.00500 The 1000 Genome Project give 5 per 1000. The change R<>Q is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs35612501 Intergenic - ('za') 'AG' MAF = 0.00639 Appears 5% in Europe and lower elsewhere. ---------------------------------------------------------------------------------------------------------------- rs36078476 HPS6 Hermansky-Pudlak syndrome 6 - missense L233R ('ss') 'GT' MAF = 0.00411. Appears 1% worldwide. The change L<>R is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs41278530 STOX1 storkhead box 1 - missense L582F ('ta') 'CT' MAF = 0.00548 The 1000 Genome Project gives 5 per 1000. The change L<>F is common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs41281310 C10orf105 chromosome 10 open reading frame 105 - UTR-3 ('mj') 'AG' MAF = 0.00182 The 1000 Genome Project gives 1 per 1000. ---------------------------------------------------------------------------------------------------------------- rs41291450 PAX2 paired box 2 - synonymous A120A ('hs') 'CT' MAF = 0.00228 Uncommon, the 1000 Genome Project gives 2 per 1000. ---------------------------------------------------------------------------------------------------------------- rs41310298 ANXA11 annexin A11 - missense T244M ('fc') 'AG' MAF = 0.00274 The 1000 Genome Project gives 2 per 1000. The change T<>M is common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs45467596 PAPSS2 3'-phosphoadenosine 5'-phosphosulfate synthase 2 - missense V291M ('cm') 'AG' MAF = 0.00959 Appears 2% worldwide. The change V<>M is common and this SNP is probably not significant. ---------------------------------------------------------------------------------------------------------------- rs55897648 CYP2E1 cytochrome P450, family 2, subfamily E, polypeptide 1 - missense V389I ('jh') 'AG' MAF = 0.00100 The 1000 Genome Project gives 1 per 1000. The change V<>I is common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs56006128 FAS Fas (TNF receptor superfamily, member 6) - missense E194K (1) ('vt') 'AG' MAF = 0.00091 The 1000 Genome Project gives 1 per 1100. The change E<>K is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs56131651 ABCC2 ATP-binding cassette, sub-family C (CFTR/MRP), member 2 - missense S281N ('rm') 'AG' MAF = 0.00731 The 1000 Genome Project gives 7 per 1000. The change S<>N is fairly common and is unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs62619919 PHYH phytanoyl-CoA 2-hydroxylase - missense R145Q ('ps') 'CT' MAF = 0.00182 The 1000 Genome Project gives 1 per 1000. The change R<>Q is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs72558199 ABCC2 ATP-binding cassette, sub-family C (CFTR/MRP), member 2 - missense R1066X ('t2') 'CT' MAF = 0.00100 The 1000 Genome Project gives 1 per 1000. The protein is truncated and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- ----------------------------------------------------------------------------------------------------------------