Chromosome 6
Chromosome 5 << >> Chromosome 7Back
---------------------------------------------------------------------------------------------------------------- Summary of data - 23andMe - 'Chromosome 6a rs7774353 - rs2518100' No data = 0 Rare SNPs = 343 Minor Allele Frequency >0 and <0.01 = 900 Minor Allele Frequency >=0.01 and <0.02 = 540 Minor Allele Frequency >=0.02 and <0.03 = 577 Minor Allele Frequency >=0.03 and <0.05 = 1217 Minor Allele Frequency >=0.05 and <0.5 = 21375 Total of SNPs = 24952 There are also 180 i-SNPs for which there is no data ---------------------------------------------------------------------------------------------------------------- Summary of data - 23andMe - 'Chromosome '6b rs9463531 - rs6941603' No data = 0 Rare SNPs = 65 Minor Allele Frequency >0 and <0.01 = 240 Minor Allele Frequency >=0.01 and <0.02 = 471 Minor Allele Frequency >=0.02 and <0.03 = 549 Minor Allele Frequency >=0.03 and <0.05 = 1141 Minor Allele Frequency >=0.05 and <0.5 = 22529 Total of SNPs = 24995 There are also 100 i-SNPs for which there is no data ---------------------------------------------------------------------------------------------------------------- Summary of data - 23andMe - 'Chromosome '6c rs10872479 - rs12530134' No data = 0 Rare SNPs = 60 Minor Allele Frequency >0 and <0.01 = 193 Minor Allele Frequency >=0.01 and <0.02 = 227 Minor Allele Frequency >=0.02 and <0.03 = 255 Minor Allele Frequency >=0.03 and <0.05 = 427 Minor Allele Frequency >=0.05 and <0.5 = 11760 Total of SNPs = 12922 There are also 36 i-SNPs for which there is no data ----------------------------------------------------------------------------------------------------------------
Example Reports:
---------------------------------------------------------------------------------------------------------------- ---------------------------------------------------------------------------------------------------------------- Person:- 'b' (email withheld) <0.01: rs9406279 at Chr6:9195293 gave 'AG' The minor allele is 'G' with a MAF = 0.00999 rs549182 at Chr6:32313023 gave 'AG' The minor allele is 'A' with a MAF = 0.00900 rs12192104 at Chr6:32688681 gave 'AC' The minor allele is 'C' with a MAF = 0.00999 rs12212764 at Chr6:43086046 gave 'CT' The minor allele is 'T' with a MAF = 0.00411 rs2235076 at Chr6:102622953 gave 'AG' The minor allele is 'A' with a MAF = 0.00959 rs17058082 at Chr6:130214612 gave 'CT' The minor allele is 'C' with a MAF = 0.00822 ---------------------------------------------------------------------------------------------------------------- Person:- 'k' (email withheld) <0.01: rs11286742 at Chr6:15072083 gave 'DI' The minor allele is 'I' with a MAF = 0.00999 rs58747567 at Chr6:24640371 gave 'CT' The minor allele is 'C' with a MAF = 0.00274 rs7450827 at Chr6:31396385 gave 'GT' The minor allele is 'G' with a MAF = 0.00999 rs439343 at Chr6:32216345 gave 'AG' The minor allele is 'G' with a MAF = 0.00600 rs11756657 at Chr6:32620269 gave 'CG' The minor allele is 'G' with a MAF = 0.00999 rs12192104 at Chr6:32688681 gave 'AC' The minor allele is 'C' with a MAF = 0.00999 rs241419 at Chr6:32931926 gave 'AG' The minor allele is 'A' with a MAF = 0.00800 rs61752140 at Chr6:43054697 gave 'AG' The minor allele is 'G' with a MAF = 0.00999. ---------------------------------------------------------------------------------------------------------------- Person:- 'i' (email withheld) <0.01: rs12211859 at Chr6:12951892 gave 'CT' The minor allele is 'C' with a MAF = 0.00594 rs12195007 at Chr6:13276290 gave 'GT' The minor allele is 'G' with a MAF = 0.00594 rs9378252 at Chr6:32081631 gave 'AT' The minor allele is 'T' with a MAF = 0.00200 ---------------------------------------------------------------------------------------------------------------- Person:- 'eb' rs3033236 at Chr6:24765834 gave 'DI' The minor allele is 'D' with a MAF = 0.00999 rs2157339 at Chr6:32619650 gave 'AT' The minor allele is 'A' with a MAF = 0.00800 rs34518860 at Chr6:32702081 gave 'AG' The minor allele is 'A' with a MAF = 0.00999 rs17246640 at Chr6:52237168 gave 'GT' The minor allele is 'G' with a MAF = 0.00868 rs11754121 at Chr6:52885836 gave 'AG' The minor allele is 'A' with a MAF = 0.00319 rs1283471 at Chr6:70098643 gave 'AG' The minor allele is 'A' with a MAF = 0.00731 rs3918291 at Chr6:160748132 gave 'CT' The minor allele is 'C' with a MAF = 0.00411 rs4252188 at Chr6:161058746 gave 'AG' The minor allele is 'G' with a MAF = 0.00685 ---------------------------------------------------------------------------------------------------------------- Person:- 'ss' rs3033236 at Chr6:24765834 gave 'DI' The minor allele is 'D' with a MAF = 0.00999 rs9378252 at Chr6:32081631 gave 'AT' The minor allele is 'T' with a MAF = 0.00200 rs2395083 at Chr6:32119459 gave 'AG' The minor allele is 'A' with a MAF = 0.00600 rs34518860 at Chr6:32702081 gave 'AG' The minor allele is 'A' with a MAF = 0.00999 rs34541484 at Chr6:31741368 gave 'CT' The minor allele is 'C' with a MAF = 0.00868 rs41273702 at Chr6:49861685 gave 'AT' The minor allele is 'T' with a MAF = 0.00100 rs1407268 at Chr6:153105803 gave 'AG' The minor allele is 'G' with a MAF = 0.00914 ----------------------------------------------------------------------------------------------------------------Submitted RS details for the <0.01 results:
rs number gene details type ---------------------------------------------------------------------------------------------------------------- ---------------------------------------------------------------------------------------------------------------- rs2941 GRM1 glutamate receptor, metabotropic 1 - missense V929I ('tg') 'AG' MAF = 0.00594 Appears 2% worldwide. The change V<>I is common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs5983 F13A1 coagulation factor XIII, A1 polypeptide - missense L589Q (2) ('cp') 'AT' MAF = 0.00274 Appears 5% in Europe and absent elsewhere. The change L<>Q is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs25526 TUBB tubulin, beta class I - intron ('ls') 'CT' MAF = 0.00868 Possibly 3% in Europe. ---------------------------------------------------------------------------------------------------------------- rs130060 HTR1B 5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled - missense F124C ('ly') 'AC' MAF = 0.00502 Appears 1% in Europe and absent elsewhere. ('dd') 'CC' The change F<>C is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs205353 Intergenic - ('dm') 'CT' MAF = 0.00776. Appears 7% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs2147377 SYNE1 spectrin repeat containing, nuclear envelope 1 - missense F7302V (1) ('ls') 'AC' MAF = 0.00457 Appears about 2% worldwide. The change F<>V is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs241401 LOC100294145 uncharacterized LOC100294145 - ncRNA ('ot') 'CT' MAF = 0.00274. Appears 1% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs241419 PSMB9 proteasome (prosome, macropain) subunit, beta type, 9 - missense V32I ('k') 'AG' MAF = 0.00800 Low in Europe, maybe higher in Africa. The change V<>I is very common. ---------------------------------------------------------------------------------------------------------------- rs324135 AARS2 alanyl-tRNA synthetase 2, mitochondrial (putative) - nearGene-5 ('tt') 'CT' MAF = 0.00776. Appears 6% in Africa, and 1% in Europe and Asia. ---------------------------------------------------------------------------------------------------------------- rs362936 GRM1 glutamate receptor, metabotropic 1 - missense G884E ('rp') 'AG' MAF = 0.00776 Appears 6% in Europe, 2% in Asia and absent from Africa. The change G<>E is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs439343 Intergenic - ('k') 'AG' MAF = 0.00600 Maybe a little higher outside Europe. ---------------------------------------------------------------------------------------------------------------- rs549182 Intergenic - ('b') 'AG' MAF = 0.00900 Uncommon in Europe, maybe 20% in Asia. ---------------------------------------------------------------------------------------------------------------- rs628009 NCOA7 nuclear receptor coactivator 7 - intron ('tg') 'GT' MAF = 0.00685. Appears 6% in Europe, 1% in Africa and absent from Asia. ---------------------------------------------------------------------------------------------------------------- rs720788 Intergenic - ('ph') 'AG' MAF = 0.00319 The 1000 Genome Project gives 3 per 1000. ---------------------------------------------------------------------------------------------------------------- rs755659 HMGN4 high mobility group nucleosomal binding domain 4 - intron ('nh') 'CT' MAF = 0.00776 The 1000 Genome Project gives 7 per 1000. ---------------------------------------------------------------------------------------------------------------- rs769176 Intergenic - ('mn') 'CT' MAF = 0.00776. Appears 7% in Asia and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs807718 DCDC2 doublecortin domain containing 2 - intron ('je') 'AT' MAF = 0.00639 Possibly 1% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs858996 Intergenic - ('ti') 'AG' MAF = 0.00685. Appears 8% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs915653 ABHD16A abhydrolase domain containing 16A - intron ('nl') 'AG' MAF = 0.00502. Appears about 1% in Europe and Asia, but absent from Africa. ('za') 'GG' Uncommon. ---------------------------------------------------------------------------------------------------------------- rs983837 Intergenic - ('jy') 'CT' MAF = 0.00822 Appears 9% in Asia. ---------------------------------------------------------------------------------------------------------------- rs989946 Intergenic - ('er') 'AG' MAF = 0.00228 Appears 1% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs1013640 RNF146 ring finger protein 146 - intron ('mj') 'AG' MAF = 0.00868 Possibly 6% in Europe and absent elsewhere. ('lt') 'AA' ---------------------------------------------------------------------------------------------------------------- rs1102567 Intergenic - ('ti') 'CT' MAF = 0.00685 Appears 9% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs1204829 Intergenic - ('tu') 'CT' MAF = 0.00274 Appears 1% in Europe. ---------------------------------------------------------------------------------------------------------------- rs1234166 CYP39A1 cytochrome P450, family 39, subfamily A, polypeptide 1 - intron ('ld') 'CT' MAF = 0.00091. Appears 1% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs1262686 Intergenic - ('er') 'AG' MAF = 0.00900 Appears about 2% in Europe and Asia, absent from Africa. ---------------------------------------------------------------------------------------------------------------- rs1264424 PPP1R10 protein phosphatase 1, regulatory subunit 10 - UTR-3 ('t2') 'CT' MAF = 0.00639. Appears 1% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs1283471 BAI3 brain-specific angiogenesis inhibitor 3 - intron ('eb') 'AG' MAF = 0.00731 Possibly 10% in Europe, much less elsewhere. ---------------------------------------------------------------------------------------------------------------- rs1041926 Intergenic - ('jk') 'AG' MAF = 0.00685 Appears 3% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs1234145 PRSS16 protease, serine, 16 (thymus) - intron ('jk') 'CT' MAF = 0.00548. Possibly 2% in Europe and Asia, and absent from Africa. ---------------------------------------------------------------------------------------------------------------- rs1407268 Intergenic - ('ss') 'AG' MAF = 0.00914 Possibly 3% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs1409992 IFNGR1 interferon gamma receptor 1 - intron ('gm') 'AG' MAF = 0.00091. The 1000 Genome Project gives 1 per 1100. ---------------------------------------------------------------------------------------------------------------- rs1610415 Unknown - 'AG' MAF = 0.00999 No population data. ---------------------------------------------------------------------------------------------------------------- rs1799974 OPRM1 opioid receptor, mu 1 - missense R260H ('ja') 'AG' MAF = 0.00999 An uncommon SNP. The change R<>H is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs1864749 Intergenic - ('mb') 'CT' MAF = 0.00685. Appears 2% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs1883323 PPARD peroxisome proliferator-activated receptor delta - UTR-5 ('tu') 'AG' MAF = 0.00548. Possibly appears 6% in Europe. ('ct') 'GG' ---------------------------------------------------------------------------------------------------------------- rs2022045 LTB lymphotoxin beta (TNF superfamily, member 3) - nearGene-5 ('be') 'CT' MAF = 0.00045. The 1000 Genome Project gives 4 per 1000. ---------------------------------------------------------------------------------------------------------------- rs2066509 GCLC glutamate-cysteine ligase, catalytic subunit - synonymous D521D ('kr') 'AG' MAF = 0.00091. Population diversity data is poor. Appears 7 per 1000 worldwide. ---------------------------------------------------------------------------------------------------------------- rs2075016 PPP1R10 protein phosphatase 1, regulatory subunit 10 - nearGene-5 ('mn') 'AG' MAF = 0.00400. Possibly 8% in Asia, 1% in Europe and absent from Africa. ---------------------------------------------------------------------------------------------------------------- rs2143064 ZNF204P zinc finger protein 204, pseudogene - intron ('vp') 'CT' MAF = 0.00000 An uncommon SNP. ---------------------------------------------------------------------------------------------------------------- rs2157339 Intergenic - ('eb') 'AT' MAF = 0.00800 Appears 1% in Europe, higher in Asia. ---------------------------------------------------------------------------------------------------------------- rs2158556 Intergenic - ('cd') 'AG' MAF = 0.00000. Up to 37% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs2179719 RPL7L1 ribosomal protein L7-like 1 - intron ('sv') 'AG' MAF = 0.00182. The 1000 Genome Project gives 1 per 1000. ---------------------------------------------------------------------------------------------------------------- rs2230121 VARS2 valyl-tRNA synthetase 2, mitochondrial (putative) - nearGene-5 ('lw') 'CT' MAF = 0.00502 Appears 1% worldwide. ---------------------------------------------------------------------------------------------------------------- rs2230513 TTK TTK protein kinase - missense A97V ('ac') 'CT' MAF = 0.00822 Appears 5% in Europe and absent elsewhere. The change A<>V is very common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs2231352 BPHL biphenyl hydrolase-like (serine hydrolase) - nearGene-5 ('gg') 'AG' MAF = 0.00182 Appears 1% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs2234026 Intergenic - ('ro') 'AG' MAF = 0.00548. Appear 2% in Asia, 1% in Europe, and absent from Africa. ---------------------------------------------------------------------------------------------------------------- rs2235076 GRIK2 glutamate receptor, ionotropic, kainate 2 - missense M867I (3) ('b') 'AG' MAF = 0.00959 Probably 1% in Europe, and probably absent elsewhere. ('cv') 'AA' The change M<>I is very common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs2236213 GSTA3 glutathione S-transferase alpha 3 - intron ('a1') 'CT' MAF = 0.00274 Appears 6% in Asia and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs2254620 Intergenic - ('ma') 'AG' MAF = 0.00639 The 1000 genome Project gives 6 per 1000. ---------------------------------------------------------------------------------------------------------------- rs2266632 GSTA2 glutathione S-transferase alpha 2 - UTR-3 ('tt') 'CT' MAF = 0.00822. Appears 10% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs2275289 BVES blood vessel epicardial substance - missense R129W ('gd') 'AG' MAF = 0.00685 Possibly 14% in Asia and absent elsewhere. The change R<>W is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs2295766 SERPINB6 serpin peptidase inhibitor, clade B (ovalbumin) - missense G153S ('sy') 'CT' MAF = 0.00502 Possibly 7% in Asia, 1% in Africa and absent from Europe. The change G<>S is fairly uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs2298090 HIST1H1E histone cluster 1, H1e - missense K152R ('kw') 'AG' MAF = 0.00594 Possibly 2% worldwide. The change K<>R is uncommon, although the amino acids are similar. ?Significance ---------------------------------------------------------------------------------------------------------------- rs2328894 SLC17A4 solute carrier family 17 (sodium phosphate), member 4 - missense Q433X ('s9') 'CT' MAF = 0.00639 Appears 4% in Europe, 1% in Asia and absent from Africa. The protein is truncated. The homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs2394014 HIST1H2AI histone cluster 1, H2ai - nearGene-3 ('jy') 'CT' MAF = 0.00594 Appears 4% in Asia and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs2395083 TNXB tenascin XB - intron ('ss') 'AG' MAF = 0.00600 Possibly 1% in Europe. ---------------------------------------------------------------------------------------------------------------- rs2517560 MDC1 mediator of DNA-damage checkpoint 1 - missense E251K ('t2') 'CT' MAF = 0.00548. The 1000 Genome Project gives 5 per 1000. The change E<>K is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs2517561 MDC1 mediator of DNA-damage checkpoint 1 - synonymous G360G ('t2') 'AG' MAF = 0.00548.The 1000 Genome Project gives 5 per 1000. ---------------------------------------------------------------------------------------------------------------- rs2517623 TRIM26 tripartite motif containing 26 - UTR-3 ('jn') 'CT' MAF = 0.00959. Appears about 4% in Europe and Asia, less in Africa. ---------------------------------------------------------------------------------------------------------------- rs2747755 DLL1 delta-like 1 (Drosophila) - nearGene-5 ('ja') 'CT' MAF = 0.00999 An uncommon SNP. ---------------------------------------------------------------------------------------------------------------- rs2841640 CUL9 cullin 9 - synonymous I1205I ('me') 'AC' MAF = 0.00548 The 1000 Genome Project gives 5 per 1000. ---------------------------------------------------------------------------------------------------------------- rs2844492 NFKBIL1 nuclear factor - intron ('ma') 'AG' MAF = 0.00457. Possibly about 6% in Europe and less elsewhere. ---------------------------------------------------------------------------------------------------------------- rs2904774 Integenic - ('vs') 'AG' MAF = 0.00959. Appears 1% in Europe and Africa, absent from Asia. ---------------------------------------------------------------------------------------------------------------- rs3025042 VEGFA vascular endothelial growth factor A - intron ('rz') 'GT' MAF = 0.00274 Appears 3% in Europe and absent elsewhere. ('hu') 'TT' ---------------------------------------------------------------------------------------------------------------- rs3033236 TDP2 tyrosyl-DNA phosphodiesterase 2 - intron ('ss','eb') 'DI' MAF = 0.00999 No population data. ---------------------------------------------------------------------------------------------------------------- rs3093672 Intergenic - ('me') 'CT' MAF = 0.00685 Appears 4% in Asia, 2% in Europe and absent from Africa. ---------------------------------------------------------------------------------------------------------------- rs3094102 ATAT1 alpha tubulin acetyltransferase 1 - nearGene-3 ('t2') 'AG' MAF = 0.00822. The 1000 Genome Project gives 8 per 1000. ---------------------------------------------------------------------------------------------------------------- rs3101943 HLA-DMB major histocompatibility complex, class II, DM beta - UTR-5 ('tk') 'AG' MAF = 0.00594 Appears 2% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs3132590 NRM nurim (nuclear envelope membrane protein) - UTR-5 ('t2') 'CT' MAF = 0.00548. The 1000 Genome Project gives 5 per 1000. ---------------------------------------------------------------------------------------------------------------- rs3177775 Intergenic - ('mh') 'CT' MAF = 0.00999 No population data. ---------------------------------------------------------------------------------------------------------------- rs3213608 GRIK2 glutamate receptor, ionotropic, kainate 2 - missense V766I (1) ('j4') 'AG' MAF = 0.00365 Appears 7% in Asia, 1% in Europe and absent from Africa. The change V<>I is common and is unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs3218808 GTF2H4 general transcription factor IIH, polypeptide 4, 52kDa - UTR-5 ('ma') 'CT' MAF = 0.00914 Possibly about 7% in Europe and less elsewhere. ---------------------------------------------------------------------------------------------------------------- rs3218810 GTF2H4 general transcription factor IIH, polypeptide 4, 52kDa - intron ('sk') 'CT' MAF = 0.00600 The 1000 Genome Project gives 6 per 1000. ---------------------------------------------------------------------------------------------------------------- rs3218811 GTF2H4 general transcription factor IIH, polypeptide 4, 52kDa - intron ('sk') 'AG' MAF = 0.00228 The 1000 Genome Project gives 2 per 1000. ---------------------------------------------------------------------------------------------------------------- rs3218816 GTF2H4 general transcription factor IIH, polypeptide 4, 52kDa - intron ('ma') 'AG' MAF = 0.00914 Possibly 7% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs3218820 GTF2H4 general transcription factor IIH, polypeptide 4, 52kDa - missense R337Q ('f0') 'AG' MAF = 0.00502 Appears 4% in Europe, 2% in Asia and absent from Africa. The change R<>Q is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs3734395 MAK male germ cell-associated kinase - UTR-3 ('sy') 'AG' MAF = 0.00502 Appears 7% in Asia and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs3734449 SOGA3 SOGA family member 3 - synonymous V601V ('kd') 'CT' MAF = 0.00502 Appears 4% in Asia and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs3748082 DAXX death-domain associated protein - nearGene-5 ('sy') 'AG' MAF = 0.00274 Appears 2% in Asia and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs3756787 ENPP3 ectonucleotide pyrophosphatase/phosphodiesterase 3 - nearGene-5 ('nr') 'AG' MAF = 0.00228 The 1000 Genome Project gives 2 per 1000. ---------------------------------------------------------------------------------------------------------------- rs3757181 Intergenic - ('j4') 'AG' MAF = 0.00685. Appears 11% in Asia and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs3761998 AIG1 androgen-induced 1 - synonymous H131H (3) ('j4') 'CT' MAF = 0.00822 Appears 7% in Asia, 1% in Africa and absent from Europe. ---------------------------------------------------------------------------------------------------------------- rs3777393 SLC22A1 solute carrier family 22 (organic cation transporter) - intron ('sy') 'AG' MAF = 0.00045. Appears 2% in Asia and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs3800025 BEND6 BEN domain containing 6 - UTR-3 ('m3') 'AG' MAF = 0.00914. Appears 9% in Asia and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs3823014 ELOVL2 ELOVL fatty acid elongase 2 - UTR-3 ('cv') 'CT' MAF = 0.00731 Possibly 11% in Asia, 1% in Europe and absent from Africa. ---------------------------------------------------------------------------------------------------------------- rs3834856 BTNL2 butyrophilin-like 2 (MHC class II associated) - nearGene-5 ('ds') 'DI' MAF = 0.00999 An uncommon SNP. No further data. ---------------------------------------------------------------------------------------------------------------- rs3918291 SLC22A3 solute carrier family 22 (extraneuronal monoamine transporter) - synonymous F201F ('eb') 'CT' MAF = 0.00411 Appears 4% in Europe, absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs3924276 Intergenic - ('tu') 'AG' MAF = 0.00776 Appears 1% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs4134982 E2F3 E2F transcription factor 3 - missense D389N ('mj') 'AG' MAF = 0.00411 Possibly 1% in Europe and absent elsewhere. The change D<>N is fairly common, but nevertheless the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs4248157 TNF tumor necrosis factor - nearGene-5 ('mn') 'CT' MAF = 0.00000 Appears 1% in Asia and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs4248160 TNF tumor necrosis factor - nearGene-5 ('rr') 'AG' MAF = 0.00731 The 1000 Genome Project gives 7 per 1000. ---------------------------------------------------------------------------------------------------------------- rs4248161 TNF tumor necrosis factor - nearGene-5 ('me') 'AC' MAF = 0.00731 The 1000 Genome Project gives 7 per 1000. ---------------------------------------------------------------------------------------------------------------- rs4248164 TNF tumor necrosis factor - nearGene-5 ('pi') 'CT' MAF = 0.00000 An uncommon SNP. Possibly 1% worldwide. ---------------------------------------------------------------------------------------------------------------- rs4252119 PLG plasminogen - missense R408W ('na') 'CT' MAF = 0.00914 Appears 9% in Africa, 2% in both Europe and Asia. The change R<>W is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs4252128 PLG plasminogen - missense A494V ('ch') 'CT' MAF = 0.00868 Appears 6% in Africa and absent elsewhere. The change A<>V is common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs4252129 PLG plasminogen - missense R523W ('k') 'CT' MAF = 0.00319 Maybe 3% in Europe and absent elsewhere. The change R<>W is uncommon and a homozygous result could be significant. ---------------------------------------------------------------------------------------------------------------- rs4252187 PLG plasminogen - missense R261H ('ch') 'AG' MAF = 0.00182 Appears 2% in Europe and Asia, absent from Africa. The change R<>H is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs4252188 PLG plasminogen - intron ('eb') 'AG' MAF = 0.00685 Poor population data. ---------------------------------------------------------------------------------------------------------------- rs4252190 PLG plasminogen - intron ('ar') 'AG' MAF = 0.00137 The 1000 Genome Project gives 1 per 1000. ---------------------------------------------------------------------------------------------------------------- rs4252195 PLG plasminogen - synonymous L618L ('ka') 'CT' MAF = 0.00500 Appears 3% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs4308538 Intergenic - ('tt') 'AG' MAF = 0.00274 Appears 10% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs4357123 LINC00240 long intergenic non-protein coding RNA 240 - intron ('ti') 'AG' MAF = 0.00137 The 1000 Genome Project gives 1 per 1000. ---------------------------------------------------------------------------------------------------------------- rs4645843 TNF tumor necrosis factor - missense P84L ('ng') 'CT' MAF = 0.00400 Appears 1% in Europe and absent elsewhere. The change P<>L is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs4645845 TNF tumor necrosis factor - UTR-3 ('nc') 'CT' MAF = 0.00091 The 1000 Genome Project gives 1 per 1100. ---------------------------------------------------------------------------------------------------------------- rs4646838 ALDH5A1 aldehyde dehydrogenase 5 family - intron ('sy') 'CT' MAF = 0.00914 Appears 13% in Asia and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs4711287 NXB tenascin XB - intron ('jy') 'AG' MAF = 0.00685 Appears 3% in Asia and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs4713504 Intergenic - ('jy') 'CG' MAF = 0.00000 Appears 13% in Asia and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs4713519 C6orf10 chromosome 6 open reading frame 10 - intron ('q4') 'GT' MAF = 0.00959 Appears 4% in Asia and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs4713520 C6orf10 chromosome 6 open reading frame 10 - intron ('q4') 'AG' MAF = 0.00959 Appears 4% in Asia and absent elsewhere. --------------------------------------------------------------------------------------------------------------- rs4713521 C6orf10 chromosome 6 open reading frame 10 - intron ('q4') 'CT' MAF = 0.00959 Appears 4% in Asia and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs4895944 Intergenic - ('gn') 'GT' MAF = 0.00000 Uncommon, appears about 1 per 1000 worldwide. ---------------------------------------------------------------------------------------------------------------- rs4947325 LOC100287329 uncharacterized LOC100287329 - ncRNA ('mn') 'AC' MAF = 0.00822 Appears 7% in Asia and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs5029963 TNFAIP3 tumor necrosis factor, alpha-induced protein 3 - intron ('cc') 'AG' MAF = 0.00319 Appears 6% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs5875382 Intergenic - 'DI' MAF = 0.00999 No population data. ---------------------------------------------------------------------------------------------------------------- rs6456773 POM121L2 POM121 transmembrane nucleoporin-like 2 - missense G850S ('jk') 'CT' MAF = 0.00639 Possibly 2% in Europe and Asia, and absent from Africa. The change G<>S is fairly uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs6901837 Intergenic - ('vk') 'AG' MAF = 0.00000 Appears 18% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs6902544 BCF1 ATP-binding cassette, sub-family F (GCN20), member 1 - missense N198D ('ic') 'AG' MAF = 0.00685 Appears 1% in Europe and Africa, absent from Asia. The change N<>D is common fairly common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs6912437 Intergenic - ('rz') 'AG' MAF = 0.00868 Appears 8% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs6913125 Intergenic - ('vk') 'AG' MAF = 0.00411 The 1000 Genome Project gives 4 per 1000. ---------------------------------------------------------------------------------------------------------------- rs6914724 Intergenic - ('jy') 'CT' MAF = 0.00685 Appears 4% in Asia, 1% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs6918287 GLP1R glucagon-like peptide 1 receptor - synonymous E133E ('s9') 'AG' MAF = 0.00457 The 1000 Genome Project gives 4 per 1000. ---------------------------------------------------------------------------------------------------------------- rs6919807 DAAM2 dishevelled associated activator of morphogenesis 2 - missense R105H ('db') 'AG' MAF = 0.00822 Appears 3% in Africa, 2% in Asia and absent in Europe. The change R<>H is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs6921234 LINC00243 long intergenic non-protein coding RNA 243 - intron ('bk') 'AC' MAF = 0.00639 Appears 3% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs6924216 C6orf201 chromosome 6 open reading frame 201 - intron ('dd') 'CT' MAF = 0.00685 Appears 8% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs6930075 Intergenic - ('ic') 'CT' MAF = 0.00502 Appears 1% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs6942070 Intergenic - ('vk') 'CT' MAF = 0.00274 Appears 1% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs7450827 Intergenic - ('k','ut') 'GT' MAF = 0.00999 No population data. ---------------------------------------------------------------------------------------------------------------- rs7738281 Intergenic - ('jf') 'CT' MAF = 0.00685 Appears 8% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs7744259 Intergenic - ('nk') 'GT' MAF = 0.00959 Appears 8% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs7745700 BTN1A1 butyrophilin, subfamily 1, member A1 - UTR-3 ('nh') 'GT' MAF = 0.00228 The 1000 Genome Project gives 2 per 1000. ---------------------------------------------------------------------------------------------------------------- rs7749944 Intergenic - ('sv') 'AC' MAF = 0.00548 Appears 3% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs7750858 Intergenic - ('mi') 'AC' MAF = 0.00776 Appears 11% in Africa, 2% in Asia and absent from Europe. ---------------------------------------------------------------------------------------------------------------- rs7750868 Intergenic - ('dh') 'CT' MAF = 0.00731 Appears 6% in Africa, 2% in Asia and absent from Europe. ---------------------------------------------------------------------------------------------------------------- rs7767894 Intergenic - ('rz') 'CT' MAF = 0.00000 Appears 11% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs7771177 HSPA1B heat shock 70kDa protein 1B - nearGene-5 ('ac') 'AC' MAF = 0.00776 The 1000 Genome Project gives 7 per 1000. ---------------------------------------------------------------------------------------------------------------- rs7773050 Intergenic - 'CT' MAF = 0.00685 The 1000 Genome Project gives 6 per 1000. ('aw') 'TT' ---------------------------------------------------------------------------------------------------------------- rs8177515 SLC22A2 solute carrier family 22 (organic cation transporter), member 2 - synonymous I40II ('ps') 'AG' MAF = 0.00182 The 1000 Genome Project gives 1 per 1000. ---------------------------------------------------------------------------------------------------------------- rs8180688 ZDHHC14 zinc finger, DHHC-type containing 14 - missense T334M ('c5') 'CT' MAF = 0.00639 The 1000 Genome Project give 6 per 1000. The change T<>M is common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs8192576 NOTCH4 notch 4 - synonymous L1610L ('jn') 'AG' MAF = 0.00639. Appears about 1% worldwide. ---------------------------------------------------------------------------------------------------------------- rs8191819 IGF2R insulin-like growth factor 2 receptor - missense G856S (1) ('mo') 'AG' MAF = 0.00000 An uncommon SNP. The change G<>S is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs9261487 TRIM40 tripartite motif containing 40 - intron ('er') 'AC' MAF = 0.00822 Appears 5% in Europe and absent elsewhere. ('m4') 'AA' ---------------------------------------------------------------------------------------------------------------- rs9267140 HCG26 HLA complex group 26 (non-protein coding) - ncRNA ('kw') 'CT' MAF = 0.00400 The 1000 Genome Project gives 4 per 1000. ---------------------------------------------------------------------------------------------------------------- rs9267154 Intergenic - ('kw') 'CT' MAF = 0.00045 The 1000 Genome Project gives 4 per 1000. ---------------------------------------------------------------------------------------------------------------- rs9267371 MICB MHC class I polypeptide-related sequence B - nearGene-5 ('kw') 'AG' MAF = 0.00400 The 1000 Genome Project gives 4 per 1000. ---------------------------------------------------------------------------------------------------------------- rs9261487 TRIM40 tripartite motif containing 40 - intron ('er') 'AC' MAF = 0.00822 Appears 5% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs9267503 LST1 leukocyte specific transcript 1 - intron ('kw') 'AG' MAF = 0.00776 Appears 1% in Europe and Africa. ---------------------------------------------------------------------------------------------------------------- rs9267528 BAG6 BCL2-associated athanogene 6 - nearGene-5 ('kw') 'CT' MAF = 0.00274 The 1000 Genome Project gives 2 per 1000. ---------------------------------------------------------------------------------------------------------------- rs9267814 PPT2 palmitoyl-protein thioesterase 2 - intron ('kw') 'AG' MAF = 0.00594 Appears 1% in Europe. ---------------------------------------------------------------------------------------------------------------- rs9267962 Intergenic - ('ji') 'GT' MAF = 0.00999 An uncommon SNP. ---------------------------------------------------------------------------------------------------------------- rs9296002 LSM2 LSM2 homolog, U6 small nuclear RNA associated (S. cerevisiae) - intron ('zn') 'CT' MAF = 0.00685 Appears 3% in Asia and 1% in Africa, absent in Europe. ---------------------------------------------------------------------------------------------------------------- rs9296020 C6orf10 chromosome 6 open reading frame 10 - intron ('st') 'AG' MAF = 0.00000 Possibly 26% in Africa, 15% in Asia and absent from Europe. ---------------------------------------------------------------------------------------------------------------- rs9332733 Intron - ('nd') 'AG' MAF = 0.00685 Possibly 4% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs9341080 ESR1 estrogen receptor 1 - UTR-3 ('bn') 'CT' MAF = 0.00274 The 1000 Genome Project gives 2 per 1000 ---------------------------------------------------------------------------------------------------------------- rs9341081 ESR1 estrogen receptor 1 - UTR-3 ('ja') 'AG' MAF = 0.00639 The 1000 Genome Project gives 6 per 1000. ---------------------------------------------------------------------------------------------------------------- rs9357083 MOG myelin oligodendrocyte glycoprotein - UTR-3 ('aa') 'CT' MAF = 0.00411 Appears 4% in Asia and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs9357137 CSNK2B casein kinase 2, beta polypeptide - nearGene-5 ('aa') 'AG' MAF = 0.00045 The 1000 Genome Project gives 1 per 2500. ---------------------------------------------------------------------------------------------------------------- rs9366681 Intergenic - ('ti') 'CT' MAF = 0.00914 The 1000 Genome Project gives about 1% ---------------------------------------------------------------------------------------------------------------- rs9378252 CYP21A2 cytochrome P450, family 21, subfamily A, polypeptide 2 - missense H62L ('i','ss') 'AT' MAF = 0.00200 Appears low in Africa and high in Europe. The change H<>L is uncommon and a homozygous result could be significant. ---------------------------------------------------------------------------------------------------------------- rs9380342 Intergenic - ('wh') 'GT' MAF = 0.00500 The 1000 Genome Project gives 5 per 1000. ---------------------------------------------------------------------------------------------------------------- rs9404991 NOTCH4 notch 4 - intron ('aa') 'AG' MAF = 0.00999 An uncommon SNP. ---------------------------------------------------------------------------------------------------------------- rs9406279 Intergenic - ('b','gg') 'AG' MAF = 0.00999 No population data. ---------------------------------------------------------------------------------------------------------------- rs9443650 Intergenic - ('sa') 'CT' MAF = 0.00182 Appears 8% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs9445739 Intergenic - ('ti') 'AC' MAF = 0.00959 Appears 5% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs9446693 Intergenic - ('mi') 'CT' MAF = 0.00000 Appears 6% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs9448665 HMGN3 high mobility group nucleosomal binding domain 3 - intron ('sa') 'AG' MAF = 0.00639 Appears 10% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs9457279 TCP10L2 t-complex 10-like 2 (mouse) - intron ('oi') 'GT' MAF = 0.00639 Appears 11% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs9461868 Intergenic - ('ac') 'AG' MAF = 0.00868 Very high in Asia and Africa, but 1% only in Europe. ---------------------------------------------------------------------------------------------------------------- rs9464651 Intergenic - ('cc') 'AG' MAF = 0.00868 Appears 13% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs9469041 Intergenic - ('zn') 'AG' MAF = 0.00639 Appears 3% in Asia and 1% in Africa, absent in Europe. ---------------------------------------------------------------------------------------------------------------- rs9469282 TAP2 transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) - intron ('en') 'CG' MAF = 0.00914 Appears 1% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs9470748 ZFAND3 zinc finger, AN1-type domain 3 - intron ('t2') 'GT' MAF = 0.00914 Appears 13% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs9478198 AKAP12 A kinase (PRKA) anchor protein 12 - missense R1198L ('k') 'GT' MAF = 0.00411 Appears 11 per 1000 worldwide. The change R<>L is uncommon and the homozygous SNP could be significant. ---------------------------------------------------------------------------------------------------------------- rs9488106 Intergenic - ('tg') 'AC' MAF = 0.00731 Appears 8% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs9491727 ECHDC1 enoyl CoA hydratase domain containing 1 - intron ('ad') 'CT' MAF = 0.00274 Appears 5% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs9491916 PTPRK protein tyrosine phosphatase, receptor type, K - intron ('mj') 'AG' MAF = 0.00776 Appears 3% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs9500915 TAP2 transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) - intron ('en') 'AG' MAF = 0.00868 Appers 1% in Europe and Africa, absent from Asia. ---------------------------------------------------------------------------------------------------------------- rs9501152 Intergenic - ('nc') 'CT' MAF = 0.00000 Appears 9% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs9502887 Intergenic - ('cd') 'CT' MAF = 0.00000 Up to 45% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs9658069 PPARD peroxisome proliferator-activated receptor delta - intron ('kw') 'CT' MAF = 0.00228 Appears about 2% in Europe and Asia. ---------------------------------------------------------------------------------------------------------------- rs9658076 PPARD peroxisome proliferator-activated receptor delta - intron ('fk') 'CT' MAF = 0.00228 The 1000 Genome Project gives 2 per 1000. ---------------------------------------------------------------------------------------------------------------- rs9658089 PPARD peroxisome proliferator-activated receptor delta - intron ('tk') 'CT' MAF = 0.00137 Possibly 2% worldwide. ---------------------------------------------------------------------------------------------------------------- rs9658097 PPARD peroxisome proliferator-activated receptor delta - intron ('lr') 'AG' MAF = 0.00600 The 1000 Genome Project gives 6 per 1000. ---------------------------------------------------------------------------------------------------------------- rs9658099 PPARD peroxisome proliferator-activated receptor delta - intron ('mj') 'GT' MAF = 0.00600 The 1000 Genome Project gives 6 per 1000. ---------------------------------------------------------------------------------------------------------------- rs9658114 PPARD peroxisome proliferator-activated receptor delta - intron ('jl') 'AG' MAF = 0.00959 Possibly 3% in Europe. ---------------------------------------------------------------------------------------------------------------- rs9658122 PPARD peroxisome proliferator-activated receptor delta - intron ('lb') 'CT' MAF = 0.00914 Appears 7% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs9658133 PPARD peroxisome proliferator-activated receptor delta - intron ('jl') 'CT' MAF = 0.00731 Possibly 3% in Europe and Africa, absent from Asia. ---------------------------------------------------------------------------------------------------------------- rs9658134 PPARD peroxisome proliferator-activated receptor delta - UTR-5 ('gg') 'AG' MAF = 0.00776 About 2% in Europe and absent in Asia. ---------------------------------------------------------------------------------------------------------------- rs9658135 PPARD peroxisome proliferator-activated receptor delta - intron ('ls') 'AG' MAF = 0.00914 Appears 3% in Europe and less elsewhere. ('th') 'AA' ---------------------------------------------------------------------------------------------------------------- rs9658149 PPARD peroxisome proliferator-activated receptor delta - intron ('ls') 'AC' MAF = 0.00914 Appears 3% in Europe and less elsewhere. ('th') 'AA' ---------------------------------------------------------------------------------------------------------------- rs9658160 PPARD peroxisome proliferator-activated receptor delta - synonymous T202T ('aa') 'CT' MAF = 0.00091 Appears 2% in Asia and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs10081141 RNF146 ring finger protein 146 - missense C24R ('br') 'CT' MAF = 0.00365 Appears 3% in Africa and absent elsewhere. The change C<>R is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs10214784 Intergenic - ('dd') 'CT' MAF = 0.00731 Appears 8% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs10456519 KIAA0240 KIAA0240 - synonymous Q913Q ('er') 'AG' MAF = 0.00776 Appears 2% worldwide. ---------------------------------------------------------------------------------------------------------------- rs10457573 MED23 mediator complex subunit 23 - UTR-3 ('dy') 'CT' MAF = 0.00091 Appears about 2% worldwide. ---------------------------------------------------------------------------------------------------------------- rs10457905 SCAF8 SR-related CTD-associated factor 8 - nearGene-5 ('gn','tg') 'AG' MAF = 0.00548 The 1000 Genome Project gives 5 per 1000. ---------------------------------------------------------------------------------------------------------------- rs10484657 Intergenic - ('rf') 'CT' MAF = 0.00800. Possibly 8% in Africa, 1% in Europe and absent from Asia. ---------------------------------------------------------------------------------------------------------------- rs11286742 Intergenic - ('k') 'DI' MAF = 0.00999 No population data. ---------------------------------------------------------------------------------------------------------------- rs11751264 ABCF1 ATP-binding cassette, sub-family F (GCN20), member 1 - intron ('ru') 'GT' MAF = 0.00548 Appears 1% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs11751917 Intergenic - ('lr') 'AG' MAF = 0.00594 Appears 5% in Europe and absent elsewhere. ('ai') 'AA' ---------------------------------------------------------------------------------------------------------------- rs11753455 Intergenic - ('jw') 'AC' MAF = 0.00914 Possibly 4% in Asia and 1% in Europe. ---------------------------------------------------------------------------------------------------------------- rs11753992 GNL1 guanine nucleotide binding protein-like 1 - UTR-3 ('ru') 'AG' MAF = 0.00548 Appears 1% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs11754121 Intergenic - ('eb') 'AG' MAF = 0.00319 The 1000 Genom Project says 3 per 1000. ---------------------------------------------------------------------------------------------------------------- rs11755385 HCG18 HLA complex group 18 (non-protein coding) - intron ('gn') 'CT' MAF = 0.00000 Uncommon, possibly 6 per 1000 in Italy. ---------------------------------------------------------------------------------------------------------------- rs11755474 SNX9 sorting nexin 9 - intron ('si') 'CT' MAF = 0.00868 Possibly up to 15% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs11754507 DSE dermatan sulfate epimerase - intron ('pi') 'AG' MAF = 0.00502 Appears 4% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs11754797 Intergenic - ('ru') 'AG' MAF = 0.00000 An uncommon SNP. ---------------------------------------------------------------------------------------------------------------- rs11755226 NCR3 natural cytotoxicity triggering receptor 3 - nearGene-5 ('ar') 'GT' MAF = 0.00365 The 1000 Genome Project gives 3 per 1000. ---------------------------------------------------------------------------------------------------------------- rs11756657 Intergenic - ('k','ut') 'CG' MAF = 0.00999 No population data. ---------------------------------------------------------------------------------------------------------------- rs11756938 MAS1L MAS1 oncogene-like - nearGene-5 ('f0') 'CT' MAF = 0.00594 Appears 2% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs11758044 Intergenic - ('ru') 'CT' MAF = 0.00594 The 1000 Genome Project gives 5 per 1000. ---------------------------------------------------------------------------------------------------------------- rs11758851 ATAT1 alpha tubulin acetyltransferase 1 - intron ('ru') 'AT' MAF = 0.00685 The 1000 Genome Project gives 6 per 1000. ---------------------------------------------------------------------------------------------------------------- rs11759095 Intergenic - ('rz') 'CT' MAF = 0.00137 Uncommon, possibly 2% in Italy. ---------------------------------------------------------------------------------------------------------------- rs11759245 Intergenic - ('mh') 'AG' MAF = 0.00639 Appears 3% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs11760149 PPP1R10 protein phosphatase 1, regulatory subunit 10 - nearGene-5 ('ru') 'CT' MAF = 0.00685 The 1000 Genome Project gives 6 per 1000. ---------------------------------------------------------------------------------------------------------------- rs11962040 C6orf10 chromosome 6 open reading frame 10 - intron ('q4') 'CT' MAF = 0.00600 Appears 16% in Africa, 4% in Asia and absent from Europe. ---------------------------------------------------------------------------------------------------------------- rs11963003 C6orf10 chromosome 6 open reading frame 10 - intron ('q4') 'GT' MAF = 0.00000 Appears 16% in Africa, 4% in Asia and absent from Europe. ---------------------------------------------------------------------------------------------------------------- rs11965337 HCG18 HLA complex group 18 (non-protein coding) -intron ('ml') 'AC' MAF = 0.00502 Appears 6% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs11968228 Intergenic - ('ma') 'CT' MAF = 0.00685 Possibly 6% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs11967812 Intergenic - ('si,'ut') 'CT' MAF = 0.00999 No population data. ---------------------------------------------------------------------------------------------------------------- rs12177661 Intergenic - ('en') 'AG' MAF = 0.00822 Appears 9% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs12189820 Intergenic - ('tk') 'CT' MAF = 0.00548 Appears 5% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs12192104 Intergenic - ('b','k') 'AC' MAF = 0.00999 No population data. ---------------------------------------------------------------------------------------------------------------- rs12192967 KHDRBS2 KH domain containing, RNA binding, signal transduction associated 2 - intron ('mb') 'CT' MAF = 0.00776 Appears 1% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs12194562 GRM1 glutamate receptor, metabotropic 1 - intron ('af') 'CT' MAF = 0.00914 Appears 7% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs12195007 PHACTR1 phosphatase and actin regulator 1 - intron ('i') 'GT' MAF = 0.00594 Maybe 8% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs12195092 PRPF4B PRP4 pre-mRNA processing factor 4 homolog B (yeast) - synonymous Q571Q ('gg') 'AG' MAF = 0.00822 Appears 4% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs12200929 DPPA5 developmental pluripotency associated 5 - missense K101R 'CT' MAF = 0.00000 A very rare SNP. The change K<>R is rare and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs12201227 Intergenic - ('nj') 'GT' MAF = 0.00639 Appears 5% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs12201722 GMDS GDP-mannose 4,6-dehydratase - intron ('mb') 'GT' MAF = 0.00731 Appears 8% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs12202071 GABRR2 gamma-aminobutyric acid (GABA) A receptor, rho 2 - intron ('tu') 'CT' MAF = 0.00457 Appears 1% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs12202093 Intergenic - ('gg') 'CT' MAF = 0.00365 Possibly 6% in Europe and absent elsewhere. ('di') 'CC' ---------------------------------------------------------------------------------------------------------------- rs12203333 CUL7 cullin 7 - synonymous F512F ('as') 'AG' MAF = 0.00000 An uncommon SNP. ---------------------------------------------------------------------------------------------------------------- rs12206204 Intergenic - ('gb') 'CT' MAF = 0.00502 Appears 3% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs12209644 Intergenic - ('sm') 'CT' MAF = 0.00045 The 1000 Genome Project gives 1 per 2250. ---------------------------------------------------------------------------------------------------------------- rs12211859 PHACTR1 phosphatase and actin regulator 1 - intron ('i') 'CT' MAF = 0.00594 Maybe 8% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs12212764 PPP2R5D protein phosphatase 2, regulatory subunit B', delta - intron ('b') 'CT' MAF = 0.00411 Generally uncommon in Europe, highest in Italy. ---------------------------------------------------------------------------------------------------------------- rs12214916 CYP39A1 cytochrome P450, family 39, subfamily A, polypeptide 1 - intron ('za') 'CT' MAF = 0.00000 An uncommon SNP. ---------------------------------------------------------------------------------------------------------------- rs12215563 ATP6V1G2 ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G2 - UTR-3 ('br') 'CG' MAF = 0.00800 Appears 1% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs12524442 ABHD16A abhydrolase domain containing 16A - nearGene-3 ('bt') 'GT' MAF = 0.00319 The 1000 Genome Project gives 3 per 1000. ---------------------------------------------------------------------------------------------------------------- rs12527982 LOC100505519 uncharacterized LOC100505519 - intron ('j8') 'CT' MAF = 0.00182 Appears 1% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs12528008 Intergenic - ('bt') 'AG' MAF = 0.00137 The 1000 Genome Project gives 1 per 1000. ---------------------------------------------------------------------------------------------------------------- rs12660307 Intergenic - ('sy') 'CT' MAF = 0.00000 Possibly 30% in Africa, 18% in Asia and absent from Europe. ---------------------------------------------------------------------------------------------------------------- rs12662753 KLHL32 kelch-like 32 (Drosophila) - missense D146G ('ap') 'AG' MAF = 0.00319 Maybe 5% in Asia and extremely uncommon elsewhere. The change D<>G is uncommon and a homozygous result could be significant. ---------------------------------------------------------------------------------------------------------------- rs12663694 ARID1B AT rich interactive domain 1B (SWI1-like) - intron ('wh') 'CT' MAF = 0.00900 Appears 36% in Asia, 5% in Africa and 1% in Europe. ('j4') 'TT' ---------------------------------------------------------------------------------------------------------------- rs13191508 Intergenic - ('gn') 'AG' MAF = 0.00822 Possibly 6% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs13192107 SLC44A4 solute carrier family 44, member 4 - intron ('pi') 'GT' MAF = 0.00685 The 1000 Genome Project gives 6 per 1000. ---------------------------------------------------------------------------------------------------------------- rs13194696 ZNF292 zinc finger protein 292 - nearGene-5 ('mh') 'CT' MAF = 0.00411 Appears 3% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs13203014 NKAIN2 Na+/K+ transporting ATPase interacting 2 - intron ('mh') 'CT' MAF = 0.00822 Appears 6% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs13204236 LAMA2 laminin, alpha 2 - intron ('ut') 'AG' MAF = 0.00868 Appears up to 11% in Europe, and absent elsewhere. ('ju') 'AA' ---------------------------------------------------------------------------------------------------------------- rs13207595 CD109 CD109 molecule - missense H1279R ('dy') 'AG' MAF = 0.00091 Appears 1% in Europe and absent elsewhere. The change H<>R is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs13213236 ARHGAP18 Rho GTPase activating protein 18 - UTR-3 ('ut') 'AG' MAF = 0.00822 Appears 3% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs13218433 Intergenic - ('lw') 'CT' MAF = 0.00228 Appears 6% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs16867622 NEU1 sialidase 1 (lysosomal sialidase) - synonymous E395E ('mh') 'CT' MAF = 0.00950 Poor population data. ---------------------------------------------------------------------------------------------------------------- rs16870005 C6orf10 chromosome 6 open reading frame 10 - missense A433T ('en') 'CT' MAF = 0.00914 Appears 2% worldwide. The change A<>T is common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs16870475 GCNT2 glucosaminyl (N-acetyl) transferase 2, (I blood group) - intron ('tk') 'AG' MAF = 0.00000 Possibly 20% in Africa, and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs16873721 Intergenic - ('jy') 'AG' MAF = 0.00959 Appears 9% in Asia and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs16874326 ENPP5 ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative) - missense Y283C ('mi') 'CT' MAF = 0.00868 Appears 8% in Asia and absent elsewhere. The change Y<>C is fairly uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs16893433 FAM46A family with sequence similarity 46, member A - UTR-3 ('aa') 'CT' MAF = 0.00365 Appears 4% in Asia and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs16895020 USP49 ubiquitin specific peptidase 49 - UTR-3 ('sp') 'AG' MAF = 0.00822 Appears 8% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs17056935 LAMA2 laminin, alpha 2 - intron ('cv') 'CT' MAF = 0.00685 Possibly 4% in Europe. ---------------------------------------------------------------------------------------------------------------- rs17058082 C6orf191 chromosome 6 open reading frame 191 - intron ('b') 'CT' MAF = 0.00822 Maybe 4% in Europe. ---------------------------------------------------------------------------------------------------------------- rs17070199 CEP57L1 centrosomal protein 57kDa-like 1 - UTR-3 ('kr') 'CT' MAF = 0.00914 Appears 4% in Europe, a little less worldwide. ---------------------------------------------------------------------------------------------------------------- rs17133610 Intergenic - ('za') 'CT' MAF = 0.00000 Absent in Europe, 40% in Africa, 14% in Asia. ---------------------------------------------------------------------------------------------------------------- rs17174794 OPRM1 opioid receptor, mu 1 - missense S47C ('hu') 'CG' MAF = 0.00319 The 1000 Genome Project gives 3 per 1000. The change s<>C is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs17180940 Intergenic - ('sv') 'GT' MAF = 0.00548 The 1000 Genome Project gives 5 per 1000. ---------------------------------------------------------------------------------------------------------------- rs17181471 IFNGR1 interferon gamma receptor 1 - synonymous V14V ('jw') 'CT' MAF = 0.00319. Possibly 4% in Europe and less elsewhere. ---------------------------------------------------------------------------------------------------------------- rs17181569 IFNGR1 interferon gamma receptor 1 - nearGene-3 ('ly') 'CG' MAF = 0.00594 The 1000 genome Project gives 5 per 1000. ---------------------------------------------------------------------------------------------------------------- rs17183864 SLC35B3 solute carrier family 35, member B3 - intron ('tt') 'AG' MAF = 0.00502 Appears 11% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs17186496 Intergenic - ('t2') 'AG' MAF = 0.00400 The 1000 Genome Project gives 4 per 1000. ---------------------------------------------------------------------------------------------------------------- rs17196989 CCHCR1 coiled-coil alpha-helical rod protein 1 - intron ('mj') 'AG' MAF = 0.00639 Possibly 4% in Europe. ---------------------------------------------------------------------------------------------------------------- rs17200768 LST1 leukocyte specific transcript 1 - nearGene-5 ('tk') 'CT' MAF = 0.00502 Possibly 3% in Europe. ---------------------------------------------------------------------------------------------------------------- rs17201109 MSH5 mutS homolog 5 (E. coli) - intron ('or') 'GT' MAF = 0.00182. The 1000 Genome Project gives 1 per 1000. ---------------------------------------------------------------------------------------------------------------- rs17201234 C6orf48 chromosome 6 open reading frame 48 - UTR-5 ('ac') 'CT' MAF = 0.00731 The 1000 Genome Project gives 7 per 1000. ---------------------------------------------------------------------------------------------------------------- rs17201269 Intergenic - ('ac') 'CT' MAF = 0.00731 The 1000 Genome Project gives 7 per 1000. ---------------------------------------------------------------------------------------------------------------- rs17207127 TNF tumor necrosis factor - nearGene-5 ('kw') 'CT' MAF = 0.00594 The 1000 Genome Project gives 5 per 1000. ---------------------------------------------------------------------------------------------------------------- rs17207545 VARS valyl-tRNA synthetase - intron ('ac') 'CT' MAF = 0.00594 The 1000 Genome Project gives 5 per 1000. ---------------------------------------------------------------------------------------------------------------- rs17207713 SLC44A4 solute carrier family 44, member 4 - intron ('ac') 'AG' MAF = 0.00731 The 1000 Genome Project gives 7 per 1000. ---------------------------------------------------------------------------------------------------------------- rs17213861 PSMB9 proteasome (prosome, macropain) subunit, beta type, 9 - missense R173C ('jr') 'CT' MAF = 0.00137 The 1000 Genome Project gives 1 per 1000. The change R<>C is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs17220493 BRD2 bromodomain containing 2 - intron ('mk') 'CT' MAF = 0.00548 Possibly 2% in Europe and less elsewhere. ---------------------------------------------------------------------------------------------------------------- rs17246640 MCM3 minichromosome maintenance complex component 3 - UTR-3 ('eb') 'GT' MAF = 0.00868 Possibly 2% in Europe. ---------------------------------------------------------------------------------------------------------------- rs17249575 TDP2 tyrosyl-DNA phosphodiesterase 2 - intron ('ut','gn') 'GT' MAF = 0.00365. Possibly 8% in Europe and less elsewhere. ---------------------------------------------------------------------------------------------------------------- rs17318151 ARID1B AT rich interactive domain 1B (SWI1-like) - missense I560V ('bb') 'AG' MAF = 0.00868 Appears 2% in Europe and absent elsewhere. The change I<>V is very common. ---------------------------------------------------------------------------------------------------------------- rs17511602 REV3L REV3-like, catalytic subunit of DNA polymerase zeta (yeast) - UTR-3 ('m3') 'CT' MAF = 0.00600. The 1000 Genome Project gives 6 per 1000. ---------------------------------------------------------------------------------------------------------------- rs17529293 Intergenic - ('gg') 'CT' MAF = 0.00822 Possibly 2% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs17548315 RIPK1 receptor (TNFRSF)-interacting serine-threonine kinase 1 - UTR-3 ('rf') 'AG' MAF = 0.00959 Possibly about 5% in Europe. ---------------------------------------------------------------------------------------------------------------- rs17615141 Intergenic - ('nc') 'CT' MAF = 0.00000 Appears 11% in Asia and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs17637756 GCNT2 glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group) - missense P85L (2) ('cp') 'CG' MAF = 0.00800 Appears 1% in Europe and absent elsewhere. The change P<>L is common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs17653265 GJA1 gap junction protein, alpha 1, 43kDa - missense A253V ('ut') 'CT' MAF = 0.00594 Appears 1% worldwide. Possibly absent outside Europe. The change A<>V is very common. ---------------------------------------------------------------------------------------------------------------- rs17737028 HIST1H2BK histone cluster 1, H2bk - nearGene-5 ('be') 'AG' MAF = 0.00639 Maybe 8% in Asia , 2% in Europe and absent from Africa. ---------------------------------------------------------------------------------------------------------------- rs17839843 TPMT thiopurine S-methyltransferase - synonymous T113T ('gg') 'AG' MAF = 0.00365. Appears 1% worldwide. ---------------------------------------------------------------------------------------------------------------- rs17847059 ESR1 estrogen receptor 1 - UTR-3 ('re') 'AG' MAF = 0.00137 The 1000 Genome Project gives 1 per 1000. ---------------------------------------------------------------------------------------------------------------- rs17875388 HLA-F-AS1 HLA-F antisense RNA 1 (non-protein coding) - intron ('sv') 'CT' MAF = 0.00594 The 1000 Genome Project gives 5 per 1000. ---------------------------------------------------------------------------------------------------------------- rs28381364 MSH5 mutS homolog 5 (E. coli) - intron ('mo') 'CT' MAF = 0.00959 Appears 10% in Hispanic regions and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs28385646 RDBP RD RNA binding protein - intron ('tg') 'AG' MAF = 0.00900 Possibly 1% in Europe. ---------------------------------------------------------------------------------------------------------------- rs28399989 SAPCD1 suppressor APC domain containing 1 - missense R40C ('mn') 'CT' MAF = 0.00365 Appears 1% in Europe and absent elsewhere. The change R<>C is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs28399991 SAPCD1 suppressor APC domain containing 1 - intron ('mo') 'AG' MAF = 0.00731 Appears 9% in Hispanic regions and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs28399994 SAPCD1 suppressor APC domain containing 1 - missense R177H ('en') 'AG' MAF = 0.00000 Appears 1 per 1000 worldwide, but higher in Hispanic areas. The change R<>H is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs28400002 VWA7 von Willebrand factor A domain containing 7 - missense G704V ('ma') 'AC' MAF = 0.00274 Possibly about 7% in Europe and less elsewhere. The change G<>V is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs28445017 LOC100287329 uncharacterized LOC100287329 - ncRNA ('or') 'AG' MAF = 0.00411 The 1000 Genome Project gives 4 per 1000. ---------------------------------------------------------------------------------------------------------------- rs28939079 TREM2 triggering receptor expressed on myeloid cells 2 - missense D134G ('ig') 'CT' MAF = 0.00999. An uncommon SNP. The change D<>G is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs34057232 DHX16 DEAH (Asp-Glu-Ala-His) box polypeptide 16 - synonymous F902F ('f0') 'AG' MAF = 0.00548 Appears 2% worldwide. ---------------------------------------------------------------------------------------------------------------- rs34130495 SLC22A1 solute carrier family 22 (organic cation transporter) - missense G401S ('bb') 'AG' MAF = 0.00731 Appears about 3% worldwide. The change G<>S in uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs34372168 Intergenic - ('ls') 'AG' MAF = 0.00900 Maybe 1% in Europe. ---------------------------------------------------------------------------------------------------------------- rs34378923 HSPA1A heat shock 70kDa protein 1A - nearGene-5 ('jk') 'AG' MAF = 0.00731. Possibly 4% in Europe and Asia, and absent from Africa. ---------------------------------------------------------------------------------------------------------------- rs34500563 TMEM14B transmembrane protein 14B - nearGene-5 ('tg') 'AG' MAF = 0.00776 Possibly 5% in Europe. ('vg') 'AA' ---------------------------------------------------------------------------------------------------------------- rs34505140 DHX16 DEAH (Asp-Glu-Ala-His) box polypeptide 16 - missense G246R ('sk') 'CT' MAF = 0.00411 Appears 1% in Europe and musch less eslewhere. The change G<>R is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs34518860 Intergenic - ('ss','eb') 'AG' MAF = 0.00999 No population data. ---------------------------------------------------------------------------------------------------------------- rs34530779 BRD2 bromodomain containing 2 - missense A569T ('nl') 'AG' MAF = 0.00685 The 1000 Genome Project gives 6 per 1000. The change A<>T is common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs34541484 GPANK1 G patch domain and ankyrin repeats 1 - UTR-5 ('ss') 'CT' MAF = 0.00868 Possibly 8% in Europe. ---------------------------------------------------------------------------------------------------------------- rs34764062 DLK2 delta-like 2 homolog (Drosophila) - synonymous S31S ('sk') 'AG' MAF = 0.00639 Appears about 1% worldwide. ---------------------------------------------------------------------------------------------------------------- rs34791928 HSPA1A heat shock 70kDa protein 1A - nearGene-5 ('mi') 'CT' MAF = 0.00914. Possibly 7% in Asia and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs34816476 NCR3 natural cytotoxicity triggering receptor 3 - missense L140F ('me') 'AG' MAF = 0.00639 The 1000 Genome Project gives 6 per 1000. The change L<> F is common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs34916193 CDKN1A cyclin-dependent kinase inhibitor 1A (p21, Cip1) - missense R84Q (2) ('m6') 'AG' MAF = 0.00137 The 1000 Genome Project gives 1 per 1000. The change R<>Q is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs35092817 NEU1 sialidase 1 (lysosomal sialidase) - nearGene-5 ('m3') 'AC' MAF = 0.00685 Appears 2% worldwide. ---------------------------------------------------------------------------------------------------------------- rs35151682 ESR1 estrogen receptor 1 - UTR-3 ('sk') 'AG' MAF = 0.00731 The 1000 Genome Project gives 7 per 1000. ---------------------------------------------------------------------------------------------------------------- rs35416863 C6orf10 chromosome 6 open reading frame 10 - intron ('jv') 'GT' MAF = 0.00999 An uncommon SNP. ---------------------------------------------------------------------------------------------------------------- rs35430176 GPR31 G protein-coupled receptor 31 - nearGene-5 ('oi') 'AC' MAF = 0.00685 The 1000 Genome Project gives 6 per 1000. ---------------------------------------------------------------------------------------------------------------- rs35445598 RIMS1 regulating synaptic membrane exocytosis 1 - missense A44T ('n1') 'AG' MAF = 0.00999 An uncommon SNP. The change A<>T is common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs35580488 FKBPL FK506 binding protein like - missense T46R (2) ('ls') 'CG' MAF = 0.00411 Appears about 1% worldwide. The change T<>R is uncommon ---------------------------------------------------------------------------------------------------------------- rs35609644 LY6G5B lymphocyte antigen 6 complex, locus G5B - intron ('ma') 'CT' MAF = 0.00319 Possibly about 6% in Europe and less elsewhere. ---------------------------------------------------------------------------------------------------------------- rs35666400 LOC100287329 uncharacterized LOC100287329 - intron ('sk') 'CT' MAF = 0.00319 The 1000 Genome Project gives 3 per 1000. ---------------------------------------------------------------------------------------------------------------- rs35888596 SLC22A1 solute carrier family 22 (organic cation transporter), member 1 - missense G38D (2) ('da') 'AG' MAF = 0.00319 The 1000 Genome Project gives 3 per 1000. The change G<>D is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs35907842 ESR1 estrogen receptor 1 - UTR-3 ('sm') 'CT' MAF = 0.00137 The 1000 Genome Project gives 1 per 1000. ---------------------------------------------------------------------------------------------------------------- rs35956182 SLC22A1 solute carrier family 22 (organic cation transporter) - missense M140I (3) ('ls') 'AG' MAF = 0.00502 Appears about 1% worldwide. The change M<>I is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs35969216 NFKBIL1 nuclear factor of kappa light polypeptide gene enhancer - intron ('me') 'CT' MAF = 0.00639 The 1000 Genome Project gives 6 per 1000. ---------------------------------------------------------------------------------------------------------------- rs36043209 HIST1H2AH histone cluster 1, H2ah - missense M1I ('sk') 'AG' MAF = 0.00594 Appears about 1% worldwide. The start codon is removed and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs36103319 SLC22A1 solute carrier family 22 (organic cation transporter) - missense G220V ('bb') 'GT' MAF = 0.00000 Appears about 1 per 1000 worldwide. The change G<>V is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs41270082 CLPS colipase, pancreatic - missense R95C ('jh') 'AG' MAF = 0.00457 The 1000 Genome Project gives 4 per 1000. The change R<>C is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs41271312 HCRTR2 hypocretin (orexin) receptor 2 - missense P11T ('za') 'AC' MAF = 0.00594 Appears 1% worldwide. ---------------------------------------------------------------------------------------------------------------- rs41273654 CYP39A1 cytochrome P450, family 39, subfamily A, polypeptide 1 - missense K329Q ('jw') 'GT' MAF = 0.00137 Possibly 1% worldwide. The change K<>Q is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs41273702 PGK2 phosphoglycerate kinase 2 - missense V392D ('ss') 'AT' MAF = 0.00100 Occurs 1 per 1000 worldwide. The change C<>D is uncommon, and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs41273726 PKHD1 polycystic kidney and hepatic disease 1 (autosomal recessive) - missense Y1136C ('sk') 'CT' MAF = 0.00548 The 1000 Genome Project gives 5 per 1000. The change Y<>C is fairly common, but the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs41286234 ALDH8A1 aldehyde dehydrogenase 8 family, member A1 - missense A366G ('bn') 'CG' MAF = 0.00731 Appears about 2% worldwide. The change A<>G is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs45503297 PKHD1 polycystic kidney and hepatic disease 1 (autosomal recessive) - missense D3139Y ('ly') 'AC' MAF = 0.00274 Appears about 6 per 1000 worldwide. The change D<>Y is uncommon and the homoxygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs45517932 PKHD1 polycystic kidney and hepatic disease 1 (autosomal recessive) - missense L1709F (1) ('bu') 'AG' MAF = 0.00137 The 1000 Genome Project gives 1 per 1000. The change L<>F is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs55654276 PARK2 parkinson protein 2, E3 ubiquitin protein ligase (parkin) - missense P153R ('ai') 'CG' MAF = 0.00411 The 1000 Genome Project gives 4 per 1000. The change P<>R in uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs55774500 PARK2 parkinson protein 2, E3 ubiquitin protein ligase (parkin) - missense A82E ('ev') 'GT' MAF = 0.00200. An uncommon SNP. The change A<>E is uncommon and the homozygous form could be significant. There is an old reference to an association with Parkinsons disease. ---------------------------------------------------------------------------------------------------------------- rs56106312 GCNT2 glucosaminyl (N-acetyl) transferase 2,(I blood group) - missense A169T ('ac') 'AG' MAF = 0.00457 Appears 8 per 1000 worldwide. The change A<>T is common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs57640466 TAP1 transporter 1, ATP-binding cassette, sub-family B (MDR/TAP) - missense G77R (1) ('sa') 'CG' MAF = 0.00914 The 1000 Genome Project gives almost 1%. The change G<>R is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs58554303 GPX5 glutathione peroxidase 5 (epididymal androgen-related protein) - missense L85P ('tk') 'CT' MAF = 0.00868 Possibly 3% in Europe. The change L<>P is fairly common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs58747567 ALDH5A1 aldehyde dehydrogenase 5 family, member A1 - synonymous D476D ('k') 'CT' MAF = 0.00274 Appears 1% worldwide. Possibly absent outside Europe. ---------------------------------------------------------------------------------------------------------------- rs61729591 TCF21 transcription factor 21 - missense D21E ('bk') 'CG' MAF = 0.00594 The 1000 Genome Project gives 5 per 1000. The change D<>E is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs61740187 ABCC10 ATP-binding cassette, sub-family C (CFTR/MRP), member 10 - missense N437D (1) ('kr') 'AG' MAF = 0.00045 The 1000 Genome Project gives 1 per 2250. The change N<> is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs61752140 PEX6 peroxisomal biogenesis factor 6 - missense L57P ('bn','k') 'AG' MAF = 0.00999. An uncommon SNP. The change L<>P is fairly common and unlikely to be significant. This reference discusses PEX6: http://www.ncbi.nlm.nih.gov/pubmed/19877282 ---------------------------------------------------------------------------------------------------------------- rs61752334 CUL7 cullin 7 - missense L1098R ('mf') 'AC' MAF = 0.00999. An uncommon SNP. The change L<>R is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs61753246 Not known - ('br') 'AG' MAF = 0.00999 Possibly 1% in Europe. ---------------------------------------------------------------------------------------------------------------- rs62621664 ALDH5A1 aldehyde dehydrogenase 5 family, member A1 - missense A237S ('tg') 'GT' MAF = 0.00776 Appears 2% worldwide. The change A<>S is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- ----------------------------------------------------------------------------------------------------------------