View genomic variants

254 entries on 3 pages. Showing entries 1 - 100.
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Variant ID     

Effect     

Chr     

AscendingDNA change     

DB-ID     

Gene     

dbSNP ID     

Risk allele     

Population     

Pubmed Reference     

IGV     

1000G     

gnomAD     

ExAC     

GTEx     

Variant remarks     

Owner     
0000001293 ./. 1 g.8484823A>G RERE_000004 RERE rs301807 A EUROPEAN Jin et al.(2016) NA 0.361222 0.3615 . View in GTEx GWAS IGIB
0000001030 ./. 1 g.8501786A>G RERE_000001 RERE rs301819 A EUROPEAN Jin et al.(2010) NA 0.366613 0.3595 . View in GTEx GWAS IGIB
0000001035 ./. 1 g.8526142G>A RERE_000002 RERE rs4908760 G EUROPEAN Jin et al.(2010) 0.4618 0.309305 0.3007 . View in GTEx GWAS IGIB
0000001036 ./. 1 g.8569906C>T RERE_000003 RERE rs11121194 C EUROPEAN Jin et al.(2010) NA 0.404952 0.3888 . View in GTEx GWAS IGIB
0000001132 ./. 1 g.11856378G>A MTHFR_000001 MTHFR rs1801133 T HAN CHINESE Chen et al.(2014) 0.1291 0.245407 0.2572 0.3037 View in GTEx CANDIDATE IGIB
0000001023 ./. 1 g.114377568_114377569del PTPN22_000001 PTPN22 rs2476601 A;T;T;T;T;T;T;T EUROPEAN; EUROPEAN; MULTIPLE POPULATIONS(META-ANALYSIS); MULTIPLE POPULATIONS(META-ANALYSIS); ROMANIAN; CAUCASIAN/EUROPEAN; MEXICAN; EUROPEAN; ASIAN, EUROPEAN, MEXICAN Jin et al.(2010);Cantón et al.(2005);Song et al.(2013);Zheng et al.(2012);Laberge et al.(2008);LaBerge et al.(2008);Garcia et al.(2014);Jin et al(2016);Silky et al.(2017); NA 0.027356 0.0813 0.0668 View in GTEx GWAS,CANDIDATE IGIB
0000001294 ./. 1 g.172715702A>G chr1_000003 - rs78037977 G EUROPEAN Jin et al.(2016) NA 0.0403355 0.0766 . View in GTEx GWAS IGIB
0000001120 ./. 1 g.186650751T>C chr1_000002 COX2 rs689466 G HAN CHINESE Li et al.(2009) NA 0.217652 0.1757 . View in GTEx CANDIDATE IGIB
0000001295 ./. 1 g.198672299T>C PTPRC_000001 PTPRC rs16843742 C EUROPEAN Jin et al.(2016) 0.1781 0.202476 0.2211 . View in GTEx GWAS IGIB
0000001122 ./. 1 g.206946897T>C chr1_000001 IL10 rs1800896 -;G SAUDI; NA Abanmi et al.(2005);Aydıngöz et al.(2015) 0.2118 0.272165 0.4018 . View in GTEx CANDIDATE IGIB
0000001296 ./. 2 g.55845109T>C chr2_000006 - rs10200159 C EUROPEAN Jin et al.(2016) NA 0.145168 0.1389 . View in GTEx GWAS IGIB
0000001297 ./. 2 g.112010486T>C chr2_000005 - rs4308124 C EUROPEAN Jin et al.(2016) 0.4396 0.430312 0.4281 . View in GTEx GWAS IGIB
0000001136 ./. 2 g.113594867A>G chr2_000004 IL1B rs16944 - INDIAN Laddha et al.(2014) 0.4336 0.490615 0.5815 . View in GTEx CANDIDATE IGIB
0000000993 ./. 2 g.163110536A>G chr2_000001 IFIH1 rs2111485 -;A;A EUROPEAN; EUROPEAN; EUROPEAN Jin et al.(2011); Jin et al.(2016); Jin et al.(2016) 0.5859 0.660743 0.5283 . View in GTEx GWAS, CANDIDATE IGIB
0000000994 ./. 2 g.163124051C>T IFIH1_000001 IFIH1 rs1990760 -;G EUROPEAN; EUROPEAN Jin et al.(2011); Jin et al.(2016) 0.5155 0.643371 0.5411 0.4953 View in GTEx GWAS IGIB
0000001298 ./. 2 g.163124637T>C IFIH1_000002 IFIH1 rs35667974 G EUROPEAN Jin et al.(2016) NA 0.00239617 0.0126 0.0116 View in GTEx Candidate IGIB
0000001299 ./. 2 g.163128824T>C IFIH1_000003 IFIH1 rs3747517 A EUROPEAN Jin et al.(2016) 0.4363 0.410144 0.335 0.3238 View in GTEx Candidate IGIB
0000001300 ./. 2 g.178130073T>C chr2_000008 - rs35652124 C HAN CHINESE Song et al.(2016) NA 0.375599 0.3 . View in GTEx Candidate IGIB
0000001086 ./. 2 g.204701554A>G chr2_000002 CTLA4 rs12992492 - EUROPEAN Birlea et al.(2010) NA 0.43131 0.43 . View in GTEx CANDIDATE IGIB
0000001085 ./. 2 g.204732714A>G CTLA4_000001 CTLA4 rs231775 -;-;G INDIAN; EUROPEAN; ROMANIAN,CAUCASIAN Dwivedi et al.(2011);Birlea et al.(2010);Birlea et al.(2009) 0.3574 0.427316 0.425 0.4112 View in GTEx CANDIDATE IGIB
0000001073 ./. 2 g.204738919G>A chr2_000003 CTLA4 rs3087243 G;G EUROPEAN; INDIAN Song et al.(2013);Dwivedi et al.(2011) 0.441 0.63099 0.6532 . View in GTEx CANDIDATE IGIB
0000001301 ./. 2 g.204740675G>A chr2_000007 - rs231725 A EUROPEAN Jin et al.(2016) NA 0.414337 0.4024 . View in GTEx GWAS IGIB
0000001302 ./. 2 g.242407588G>A FARP2_000001 FARP2 rs41342147 A EUROPEAN Jin et al.(2016) NA 0.0842652 0.1023 0.1034 View in GTEx GWAS IGIB
0000001303 ./. 3 g.23512313del UBE2E2_000001 UBE2E2 rs35161626 - EUROPEAN Jin et al.(2016) NA 0.630391 0.6458 . View in GTEx GWAS IGIB
0000001105 ./. 3 g.30690748G>A TGFBR2_000001 TGFBR2 rs2005061 - KOREAN Yun et al.(2010) 0.2293 0.200479 0.1355 . View in GTEx CANDIDATE IGIB
0000001106 ./. 3 g.30712460C>G TGFBR2_000002 TGFBR2 rs3773645 - KOREAN Yun et al.(2010) NA 0.270168 0.258 . View in GTEx CANDIDATE IGIB
0000001107 ./. 3 g.30716602G>A TGFBR2_000003 TGFBR2 rs3773649 - KOREAN Yun et al.(2010) 0.236 0.275359 0.2611 . View in GTEx CANDIDATE IGIB
0000001304 ./. 3 g.49395695A>G GPX1_000001 NA rs4991448 C INDIAN Mansuri et al.(2016) NA {1000G:rs4991448} - - View in GTEx Candidate IGIB
0000001305 ./. 3 g.49395698C>G GPX1_000002 GPX1 rs8179169 C INDIAN Mansuri et al.(2016) NA 0.0125799 0.009 0.0059 View in GTEx Candidate IGIB
0000001306 ./. 3 g.71557945C>A FOXP1_000002 FOXP1 rs34346645 A EUROPEAN Jin et al.(2016) NA 0.197484 0.3149 . View in GTEx GWAS IGIB
0000001101 ./. 3 g.71573135T>G FOXP1_000001 FOXP1 rs17008723 G EUROPEAN Jin et al.(2010) 0.1271 0.11222 0.1505 . View in GTEx CANDIDATE IGIB
0000001307 ./. 3 g.119283468T>C chr3_000003 - rs148136154 C EUROPEAN Jin et al.(2016) NA {1000G:rs148136154} - - View in GTEx GWAS IGIB
0000000995 ./. 3 g.119288414A>C chr3_000001 CD80 rs59374417 - EUROPEAN Jin et al.(2011) NA 0.22524 0.1643 . View in GTEx GWAS IGIB
0000000996 ./. 3 g.119288848C>A chr3_000002 CD80 rs4330287 - EUROPEAN Jin et al.(2011) 0.343 0.222244 0.1624 . View in GTEx GWAS IGIB
0000001308 ./. 3 g.165491280C>T BCHE_000001 BCHE rs1803274 NA BRAZIL Machado et al.(2015) NA 0.158546 0.1769 0.1891 View in GTEx Candidate IGIB
0000001309 ./. 3 g.165505177A>G BCHE_000002 BCHE rs1355538 NA BRAZIL Machado et al.(2015) 0.5418 0.439896 0.4561 . View in GTEx Candidate IGIB
0000000988 ./. 3 g.188087628C>T LPP_000005 LPP rs9851967 T HAN CHINESE Tang et al.(2013) 0.2831 0.271166 0.3476 . View in GTEx GWAS IGIB
0000001025 ./. 3 g.188089254C>T LPP_000004 LPP rs13076312 T;T EUROPEAN; EUROPEAN Quan et al.(2010); Jin et al.(2016) 0.5279 0.509585 0.4496 . View in GTEx GWAS IGIB
0000001024 ./. 3 g.188112554C>A LPP_000001 LPP rs1464510 T EUROPEAN Jin et al.(2010) 0.4369 0.442692 0.4096 . View in GTEx GWAS IGIB
0000001037 ./. 3 g.188114589G>T LPP_000002 LPP rs13091753 T EUROPEAN Jin et al.(2010) 0.4411 0.399361 0.3829 . View in GTEx GWAS IGIB
0000001038 ./. 3 g.188124354C>A LPP_000003 LPP rs1559810 T EUROPEAN Jin et al.(2010) 0.4969 0.400958 0.361 . View in GTEx GWAS IGIB
0000001310 ./. 3 g.196347253T>A chr3_000004 - rs6583331 A EUROPEAN Jin et al.(2016) NA 0.366414 0.3894 . View in GTEx GWAS IGIB
0000000997 ./. 4 g.10726707C>T chr4_000002 CLNK rs11940117 - EUROPEAN Jin et al.(2011) NA 0.433706 0.4327 . View in GTEx GWAS IGIB
0000000998 ./. 4 g.10726853C>T chr4_000001 CLNK rs16872571 - EUROPEAN Jin et al.(2011) 0.4741 0.395966 0.3164 . View in GTEx GWAS IGIB
0000001158 ./. 4 g.24801354C>T SOD3_000001 SOD3 rs8192291 - NA Laddha et al.(2013) NA 0.198482 0.1695 0.2498 View in GTEx EXPRESSION IGIB
0000001311 ./. 4 g.102223386C>A PPP3CA_000001 PPP3CA rs1031034 A EUROPEAN Jin et al.(2016) NA 0.367612 0.3048 . View in GTEx GWAS IGIB
0000001166 ./. 4 g.154626317G>A TLR2_000001 TLR2 rs5743708 - TURKISH Karaca et al.(2013) NA 0.00678914 0.0232 0.0173 View in GTEx CANDIDATE IGIB
0000000982 ./. 5 g.13717471T>C DNAH5_000001 DNAH5 rs2277046 - KOREAN Cheong et al.(2013) NA 0.158946 0.0996 0.1406 View in GTEx GWAS IGIB
0000001095 ./. 5 g.110400191G>C chr5_000001 TSLP rs764916 - EUROPEAN Birlea et al.(2010) NA 0.1873 0.1162 . View in GTEx CANDIDATE IGIB
0000001096 ./. 5 g.110406742C>T TSLP_000001 TSLP rs3806933 -;C EUROPEAN; KOREAN Birlea et al.(2010);Cheong et al.(2009) 0.3616 0.573682 0.5918 . View in GTEx CANDIDATE IGIB
0000001148 ./. 5 g.132009154C>T chr5_000002 IL4 rs2243250 - INDIAN Imran et al.(2012) 0.2459 0.469848 0.3744 . View in GTEx EXPRESSION IGIB
0000001312 ./. 6 g.396321C>T IRF4_000001 IRF4 rs12203592 T EUROPEAN Jin et al.(2016) 0.006211 0.0367412 0.0885 . View in GTEx GWAS IGIB
0000001313 ./. 6 g.2908591A>G chr6_000034 - rs78521699 G EUROPEAN Jin et al.(2016) NA 0.161941 0.154 . View in GTEx GWAS IGIB
0000001110 ./. 6 g.7881931T>C TXNDC5_000003 TXNDC5 rs1043784 - KOREAN Jeong et al.(2009) 0.1353 0.223243 0.2167 . View in GTEx CANDIDATE IGIB
0000001111 ./. 6 g.7882205G>A TXNDC5_000002 TXNDC5 rs7764128 - KOREAN Jeong et al.(2009) NA 0.222444 0.2157 . View in GTEx CANDIDATE IGIB
0000001112 ./. 6 g.7883073C>T TXNDC5_000001 TXNDC5 rs8643 - KOREAN Jeong et al.(2009) NA 0.0972444 0.1028 . View in GTEx CANDIDATE IGIB
0000001083 ./. 6 g.29794317G>A chr6_000028 HLA-G rs1736936 - KOREAN Kim et al.(2011) 0.6853 0.541733 0.4653 . View in GTEx CANDIDATE IGIB
0000001039 ./. 6 g.29822261G>A chr6_000015 HLA-G rs2975033 T EUROPEAN Jin et al.(2010) NA 0.2498 0.2735 . View in GTEx GWAS IGIB
0000001040 ./. 6 g.29917439T>C chr6_000005 HLA-A rs2517715 G EUROPEAN Jin et al.(2010) 0.2133 0.305312 0.3299 . View in GTEx GWAS IGIB
0000001041 ./. 6 g.29932897G>A chr6_000006 HLA-A-HCG9 rs3903160 T EUROPEAN Jin et al.(2010) 0.1512 0.254992 0.2873 . View in GTEx GWAS IGIB
0000001042 ./. 6 g.29933881T>A chr6_000007 HLA-A-HCG9 rs6457110 A EUROPEAN Jin et al.(2010) NA 0.384585 0.4037 . View in GTEx GWAS IGIB
0000001043 ./. 6 g.29935250_29935251del chr6_000008 HLA-A-HCG9 rs3893464 C EUROPEAN Jin et al.(2010) 0.3048 0.489018 0.5475 . View in GTEx GWAS IGIB
0000001022 ./. 6 g.29937127A>G chr6_000009 HLA-A-HCG9 rs12206499 G;-;- EUROPEAN; EUROPEAN; EUROPEAN Jin et al.(2010);Birlea et al.(2010);Jin et al.(2012) NA 0.260383 0.2821 . View in GTEx GWAS, CANDIDATE, NGS IGIB
0000001314 ./. 6 g.29937336_29937339del chr6_000030 HLA-A rs60131261 -;- EUROPEAN; EUROPEAN Jin et al.(2016); Hayashi et al.(2016) NA {1000G:rs60131261} - - View in GTEx GWAS,CANDIDATE IGIB
0000001065 ./. 6 g.29942083C>T chr6_000010 HLA-A-HCG9 rs3823355 T EUROPEAN Jin et al.(2010) 0.1599 0.256589 0.278 . View in GTEx GWAS IGIB
0000001066 ./. 6 g.29943067G>A HCG9_000001 HCG9 rs6904029 A EUROPEAN Jin et al.(2010) 0.1667 0.25599 0.2774 0.3413 View in GTEx GWAS IGIB
0000001141 ./. 6 g.29944158T>C HCG9_000002 HCG9 rs3823375 C;C JAPANESE; EUROPEAN Jin et al.(2015);Jin et al.(2010) 0.1837 0.299321 0.3182 . View in GTEx CANDIDATE, GWAS IGIB
0000001044 ./. 6 g.29954364C>G chr6_000011 HCG9-HLA-J rs4947244 G EUROPEAN Jin et al.(2010) NA 0.226238 0.2484 . View in GTEx GWAS IGIB
0000001045 ./. 6 g.29957069A>G chr6_000012 HLA-J rs4959039 G EUROPEAN Jin et al.(2010) NA 0.273962 0.3169 . View in GTEx GWAS IGIB
0000001046 ./. 6 g.29984252G>A ZNRD1-AS1_000001 HLA-J rs9357092 A EUROPEAN Jin et al.(2010) 0.1632 0.233826 0.2547 . View in GTEx GWAS IGIB
0000001047 ./. 6 g.30024677C>T ZNRD1-AS1_000002 ZNRD1 rs9366752 T EUROPEAN Jin et al.(2010) NA 0.219249 0.2289 . View in GTEx GWAS IGIB
0000001048 ./. 6 g.30047403G>A chr6_000002 RNF39 rs4711209 A EUROPEAN Jin et al.(2010) 0.166 0.227037 0.2489 . View in GTEx GWAS IGIB
0000001049 ./. 6 g.30055643G>T chr6_000003 RNF39-TRIM31 rs6909253 G EUROPEAN Jin et al.(2010) NA 0.410343 0.4076 . View in GTEx GWAS IGIB
0000001140 ./. 6 g.30064562_30064563del chr6_000004 RNF39-TRIM31 rs9261394 A;A JAPANESE; EUROPEAN Jin et al.(2015);Jin et al.(2010) 0.4009 0.372404 0.3856 . View in GTEx CANDIDATE, GWAS IGIB
0000001108 ./. 6 g.30855251G>A DDR1_000002 DDR1 rs4618569 T BRAZILIAN Silva et al.(2010) 0.5496 0.415535 0.2552 . View in GTEx CANDIDATE IGIB
0000001109 ./. 6 g.30865204A>C DDR1_000001 DDR1 rs2267641 C BRAZILIAN Silva et al.(2010) NA 0.282348 0.1777 0.23 View in GTEx CANDIDATE IGIB
0000001019 ./. 6 g.31258837G>A chr6_000027 HLA-C-HLA-B rs9468925 A;G;- HAN CHINESE; HAN CHINESE; HAN CHINESE Quan et al.(2010);Liu et al.(2012);Zhu et al.(2011) 0.4871 0.470048 0.4354 . View in GTEx GWAS, CANDIDATE IGIB
0000001094 ./. 6 g.31540071G>A LTA_000001 LTA rs1800683 - EUROPEAN Birlea et al.(2010) NA 0.389577 0.3961 . View in GTEx CANDIDATE IGIB
0000001163 ./. 6 g.31540313A>G LTA_000002 TNFB rs909253 -;G NA; SAUDI Laddha et al.(2013);Al et al.(2013) 0.2087 0.389776 0.3965 . View in GTEx EXPRESSION, CANDIDATE IGIB
0000001164 ./. 6 g.31540784C>A LTA_000003 TNFB rs1041981 - NA Laddha et al.(2013) 0.2087 0.389577 0.3925 0.3496 View in GTEx EXPRESSION IGIB
0000001153 ./. 6 g.31542308T>C chr6_000016 TNFA rs1799964 - INDIAN Laddha et al.(2012) 0.3934 0.21905 0.1861 . View in GTEx EXPRESSION IGIB
0000001152 ./. 6 g.31542476C>A chr6_000017 TNFA rs1800630 - INDIAN Laddha et al.(2012) 0.3271 0.154153 0.143 . View in GTEx EXPRESSION IGIB
0000001151 ./. 6 g.31542482C>T chr6_000013 TNFA rs1799724 - INDIAN Laddha et al.(2012) 0.1611 0.0990415 0.0782 . View in GTEx EXPRESSION IGIB
0000001150 ./. 6 g.31543031G>A chr6_000014 TNFA rs1800629 -;A;A;A;A;A;A INDIAN; SAUDI; IRANIAN; NA; MEXICAN; META-ANALSIS; META-ANALSIS; META-ANALSIS Laddha et al.(2012);Al et al.(2013);Namain et al.(2008);Aydıngöz et al.(2015);Salinas et al.(2015); Wu et al.(2015);Lee et al.(2015);Nie et al.(2015) 0.05888 0.0902556 0.1462 0.1616 View in GTEx EXPRESSION, CANDIDATE IGIB
0000001149 ./. 6 g.31543101G>A chr6_000001 TNFA rs361525 - INDIAN Laddha et al.(2012) {IGV:rs361525} 0.0609026 0.039 . View in GTEx EXPRESSION IGIB
0000001018 ./. 6 g.31837066C>T SLC44A4_000001 HLA CLASS 3 rs11966200 A;A HAN CHINESE; HAN CHINESE Quan et al.(2010);Tang et al.(2013) 0.01343 0.0377396 0.0453 0.0323 View in GTEx GWAS, CANDIDATE IGIB
0000001072 ./. 6 g.32194854G>A chr6_000029 NOTCH4 rs3096691 G INDIAN Birlea et al.(2013) 0.4246 0.459065 0.5534 . View in GTEx CANDIDATE IGIB
0000000991 ./. 6 g.32345283C>A chr6_000018 C6orf10-BTNL2 rs7758128 A;A EUROPEAN; EUROPEAN Jin et al.(2011);Jin et al.(2010) 0.05165 0.0473243 0.0429 . View in GTEx GWAS IGIB
0000001067 ./. 6 g.32373698G>T chr6_000019 BTNL2-HLA-DRA rs3806156 T EUROPEAN Jin et al.(2010) NA 0.396565 0.3507 . View in GTEx GWAS IGIB
0000001071 ./. 6 g.32400939G>C chr6_000020 HLA-DRA rs3129859 G INDIAN Birlea et al.(2013) NA 0.234425 0.287 . View in GTEx CANDIDATE IGIB
0000001050 ./. 6 g.32433167_32433168del chr6_000021 HLA-DRA-HLA-DRB5 rs2395185 T EUROPEAN Jin et al.(2010) 0.2432 0.292931 0.2701 . View in GTEx GWAS IGIB
0000001051 ./. 6 g.32570400T>C chr6_000023 HLA-DRB1-HLA-DQA1 rs2516049 G EUROPEAN Jin et al.(2010) 0.2409 0.217053 . . View in GTEx GWAS IGIB
0000001070 ./. 6 g.32576064G>C chr6_000024 HLA-DRB1-HLA-DQA1 rs482044 G INDIAN Birlea et al.(2013) NA 0.371406 0.3524 . View in GTEx CANDIDATE IGIB
0000000992 ./. 6 g.32578052G>A chr6_000025 HLA-DRB1-DQA1 rs532098 T;T EUROPEAN; EUROPEAN Jin et al.(2011);Jin et al.(2010) 0.3375 0.426917 0.4159 . View in GTEx GWAS IGIB
0000001315 ./. 6 g.32591291T>A chr6_000031 - rs9271597 A;- EUROPEAN; EUROPEAN Jin et al.(2016); Cavalli et al.(2016) NA 0.388379 0.3678 . View in GTEx GWAS,CANDIDATE IGIB
0000001052 ./. 6 g.32594103G>A chr6_000026 HLA-DQA1 rs34518860 A EUROPEAN Jin et al.(2010) NA {1000G:rs34518860} - - View in GTEx GWAS IGIB
0000001316 ./. 6 g.32635312A>G chr6_000032 - rs9274579 NA KOREAN Moon et al.(2016) NA 0.804712 . . View in GTEx Candidate IGIB
0000001129 ./. 6 g.32796751_32796752del TAP2_000003 TAP2 rs241447 - CAUCASIAN/EUROPEAN Casp et al.(2003) 0.3802 0.301717 0.2602 0.3633 View in GTEx CANDIDATE IGIB
0000001128 ./. 6 g.32800412C>T TAP2_000001 TAP2 rs1800454 - CAUCASIAN/EUROPEAN Casp et al.(2003) 0.1219 0.145966 0.152 0.1437 View in GTEx CANDIDATE IGIB
0000001092 ./. 6 g.32804798G>A TAP2_000002 TAP1-PSMB8 rs3819721 - EUROPEAN Birlea et al.(2010) NA 0.285743 0.2704 . View in GTEx CANDIDATE IGIB
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