View genomic variants

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

Effect     

Chr     

AscendingDNA change (genomic)     

DB-ID     

Gene or Locus mapped in study     

dbSNP ID     

IGV     

1000 Genomes     

Population     

Pubmed Reference     

Variant remarks     

Risk allele     

Owner     
0000001236 ./. 1 g.8484823A>G RERE_000004 - rs301807 - - - - - - Ankita
0000001030 ./. 1 g.8501786A>G RERE_000001 RERE rs301819 NA 1000G EUROPEAN Jin et al.(2010) GWAS A Ankita
0000001035 ./. 1 g.8526142G>A RERE_000002 RERE rs4908760 IGV 1000G EUROPEAN Jin et al.(2010) GWAS G Ankita
0000001036 ./. 1 g.8569906C>T RERE_000003 RERE rs11121194 NA 1000G EUROPEAN Jin et al.(2010) GWAS C Ankita
0000001132 ./. 1 g.11856378G>A MTHFR_000001 MTHFR rs1801133 IGV 1000G HAN CHINESE Chen et al.(2014) CANDIDATE T Ankita
0000001023 ./. 1 g.114377568_114377569del PTPN22_000001 PTPN22 rs2476601 NA 1000G EUROPEAN;EUROPEAN;MULTIPLE POPULATIONS(META-ANALYSIS);MULTIPLE POPULATIONS(META-ANALYSIS);ROMANIAN;CAUCASIAN/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) GWAS, CANDIDATE A;T;T;T;T;T;T Ankita
0000001237 ./. 1 g.172715702A>G chr1_000003 - rs78037977 - - - - - - Ankita
0000001120 ./. 1 g.186650751T>C chr1_000002 COX2 rs689466 NA 1000G HAN CHINESE Li et al.(2009) CANDIDATE G Ankita
0000001238 ./. 1 g.198672299T>C - - rs16843742 - - - - - - Ankita
0000001122 ./. 1 g.206946897T>C chr1_000001 IL10 rs1800896 IGV 1000G SAUDI;NA Abanmi et al.(2005);Aydıngöz et al.(2015) CANDIDATE -;G Ankita
0000001239 ./. 2 g.55845109T>C chr2_000006 - rs10200159 - - - - - - Ankita
0000001240 ./. 2 g.112010486T>C chr2_000008 - rs4308124 - - - - - - Ankita
0000001136 ./. 2 g.113594867A>G chr2_000004 IL1B rs16944 IGV 1000G INDIAN Laddha et al.(2014) CANDIDATE - Ankita
0000000993 ./. 2 g.163110536A>G chr2_000001 IFIH1 rs2111485 IGV 1000G EUROPEAN Jin et al.(2011) GWAS - Ankita
0000000994 ./. 2 g.163124051C>T IFIH1_000001 IFIH1 rs1990760 IGV 1000G EUROPEAN Jin et al.(2011) GWAS - Ankita
0000001241 ./. 2 g.163124637T>C IFIH1_000003 - rs35667974 - - - - - - Ankita
0000001242 ./. 2 g.163128824T>C IFIH1_000002 - rs3747517 - - - - - - Ankita
0000001243 ./. 2 g.178130073T>C chr2_000007 - rs35652124 - - - - - - Ankita
0000001086 ./. 2 g.204701554A>G chr2_000002 CTLA4 rs12992492 NA 1000G EUROPEAN Birlea et al.(2010) CANDIDATE - Ankita
0000001085 ./. 2 g.204732714A>G CTLA4_000001 CTLA4 rs231775 IGV 1000G INDIAN;EUROPEAN;ROMANIAN,CAUCASIAN Dwivedi et al.(2011);Birlea et al.(2010);Birlea et al.(2009) CANDIDATE -;-;G Ankita
0000001073 ./. 2 g.204738919G>A chr2_000003 CTLA4 rs3087243 IGV 1000G EUROPEAN;INDIAN Song et al.(2013);Dwivedi et al.(2011) CANDIDATE G;G Ankita
0000001244 ./. 2 g.204740675G>A chr2_000005 - rs231725 - - - - - - Ankita
0000001245 ./. 2 g.242407588G>A - - rs41342147 - - - - - - Ankita
0000001246 ./. 3 g.23512313del - - rs35161626 - - - - - - Ankita
0000001105 ./. 3 g.30690748G>A TGFBR2_000001 TGFBR2 rs2005061 IGV 1000G KOREAN Yun et al.(2010) CANDIDATE - Ankita
0000001106 ./. 3 g.30712460C>G TGFBR2_000002 TGFBR2 rs3773645 NA 1000G KOREAN Yun et al.(2010) CANDIDATE - Ankita
0000001107 ./. 3 g.30716602G>A TGFBR2_000003 TGFBR2 rs3773649 IGV 1000G KOREAN Yun et al.(2010) CANDIDATE - Ankita
0000001247 ./. 3 g.49395695A>G GPX1_000002 - rs4991448 - - - - - - Ankita
0000001248 ./. 3 g.49395698C>G GPX1_000001 - rs8179169 - - - - - - Ankita
0000001249 ./. 3 g.71557945C>A FOXP1_000002 - rs34346645 - - - - - - Ankita
0000001101 ./. 3 g.71573135T>G FOXP1_000001 FOXP1 rs17008723 IGV 1000G EUROPEAN Jin et al.(2010) CANDIDATE G Ankita
0000001250 ./. 3 g.119283468T>C chr3_000003 - rs148136154 - - - - - - Ankita
0000000995 ./. 3 g.119288414A>C chr3_000001 CD80 rs59374417 NA 1000G EUROPEAN Jin et al.(2011) GWAS - Ankita
0000000996 ./. 3 g.119288848C>A chr3_000002 CD80 rs4330287 IGV 1000G EUROPEAN Jin et al.(2011) GWAS - Ankita
0000001251 ./. 3 g.165491280C>T BCHE_000002 - rs1803274 - - - - - - Ankita
0000001252 ./. 3 g.165505177A>G BCHE_000001 - rs1355538 - - - - - - Ankita
0000000988 ./. 3 g.188087628C>T LPP_000005 LPP rs9851967 IGV 1000G HAN CHINESE Tang et al.(2013) GWAS T Ankita
0000001025 ./. 3 g.188089254C>T LPP_000004 LPP rs13076312 IGV 1000G EUROPEAN Jin et al.(2010) GWAS T Ankita
0000001024 ./. 3 g.188112554C>A LPP_000001 LPP rs1464510 NA 1000G EUROPEAN Jin et al.(2010) GWAS T Ankita
0000001037 ./. 3 g.188114589G>T LPP_000002 LPP rs13091753 IGV 1000G EUROPEAN Jin et al.(2010) GWAS T Ankita
0000001038 ./. 3 g.188124354C>A LPP_000003 LPP rs1559810 IGV 1000G EUROPEAN Jin et al.(2010) GWAS T Ankita
0000001253 ./. 3 g.196347253T>A chr3_000004 - rs6583331 - - - - - - Ankita
0000000997 ./. 4 g.10726707C>T chr4_000002 CLNK rs11940117 NA 1000G EUROPEAN Jin et al.(2011) GWAS - Ankita
0000000998 ./. 4 g.10726853C>T chr4_000001 CLNK rs16872571 IGV 1000G EUROPEAN Jin et al.(2011) GWAS - Ankita
0000001158 ./. 4 g.24801354C>T SOD3_000001 SOD3 rs8192291 NA 1000G NA Laddha et al.(2013) EXPRESSION - Ankita
0000001254 ./. 4 g.102223386C>A - - rs1031034 - - - - - - Ankita
0000001166 ./. 4 g.154626317G>A TLR2_000001 TLR2 rs5743708 NA 1000G TURKISH Karaca et al.(2013) CANDIDATE - Ankita
0000000982 ./. 5 g.13717471T>C DNAH5_000001 DNAH5 rs2277046 NA 1000G KOREAN Cheong et al.(2013) GWAS - Ankita
0000001095 ./. 5 g.110400191G>C chr5_000001 TSLP rs764916 NA 1000G EUROPEAN Birlea et al.(2010) CANDIDATE - Ankita
0000001096 ./. 5 g.110406742C>T TSLP_000001 TSLP rs3806933 IGV 1000G EUROPEAN;KOREAN Birlea et al.(2010);Cheong et al.(2009) CANDIDATE -;C Ankita
0000001148 ./. 5 g.132009154C>T chr5_000002 IL4 rs2243250 IGV 1000G INDIAN Imran et al.(2012) EXPRESSION - Ankita
0000001255 ./. 6 g.396321C>T - - rs12203592 - - - - - - Ankita
0000001256 ./. 6 g.2908591A>G chr6_000033 - rs78521699 - - - - - - Ankita
0000001110 ./. 6 g.7881931T>C TXNDC5_000003 TXNDC5 rs1043784 IGV 1000G KOREAN Jeong et al.(2009) CANDIDATE - Ankita
0000001111 ./. 6 g.7882205G>A TXNDC5_000002 TXNDC5 rs7764128 NA 1000G KOREAN Jeong et al.(2009) CANDIDATE - Ankita
0000001112 ./. 6 g.7883073C>T TXNDC5_000001 TXNDC5 rs8643 NA 1000G KOREAN Jeong et al.(2009) CANDIDATE - Ankita
0000001083 ./. 6 g.29794317G>A chr6_000028 HLA-G rs1736936 IGV 1000G KOREAN Kim et al.(2011) CANDIDATE - Ankita
0000001039 ./. 6 g.29822261G>A chr6_000015 HLA-G rs2975033 NA 1000G EUROPEAN Jin et al.(2010) GWAS T Ankita
0000001040 ./. 6 g.29917439T>C chr6_000005 HLA-A rs2517715 IGV 1000G EUROPEAN Jin et al.(2010) GWAS G Ankita
0000001041 ./. 6 g.29932897G>A chr6_000006 HLA-A-HCG9 rs3903160 NA 1000G EUROPEAN Jin et al.(2010) GWAS T Ankita
0000001042 ./. 6 g.29933881T>A chr6_000007 HLA-A-HCG9 rs6457110 NA 1000G EUROPEAN Jin et al.(2010) GWAS A Ankita
0000001043 ./. 6 g.29935250_29935251del chr6_000008 HLA-A-HCG9 rs3893464 IGV 1000G EUROPEAN Jin et al.(2010) GWAS C Ankita
0000001022 ./. 6 g.29937127A>G chr6_000009 HLA-A-HCG9 rs12206499 NA 1000G EUROPEAN;EUROPEAN;EUROPEAN Jin et al.(2010);Birlea et al.(2010);Jin et al.(2012) GWAS, CANDIDATE, NGS G;-;- Ankita
0000001257 ./. 6 g.29937336_29937339del chr6_000030 - rs60131261 - - - - - - Ankita
0000001065 ./. 6 g.29942083C>T chr6_000010 HLA-A-HCG9 rs3823355 NA 1000G EUROPEAN Jin et al.(2010) GWAS T Ankita
0000001066 ./. 6 g.29943067G>A HCG9_000001 HCG9 rs6904029 IGV 1000G EUROPEAN Jin et al.(2010) GWAS A Ankita
0000001141 ./. 6 g.29944158T>C HCG9_000002 HCG9 rs3823375 NA 1000G JAPANESE;EUROPEAN Jin et al.(2015);Jin et al.(2010) CANDIDATE, GWAS C;C Ankita
0000001044 ./. 6 g.29954364C>G chr6_000011 HCG9-HLA-J rs4947244 NA 1000G EUROPEAN Jin et al.(2010) GWAS G Ankita
0000001045 ./. 6 g.29957069A>G chr6_000012 HLA-J rs4959039 NA 1000G EUROPEAN Jin et al.(2010) GWAS G Ankita
0000001046 ./. 6 g.29984252G>A ZNRD1-AS1_000001 HLA-J rs9357092 IGV 1000G EUROPEAN Jin et al.(2010) GWAS A Ankita
0000001047 ./. 6 g.30024677C>T ZNRD1-AS1_000002 ZNRD1 rs9366752 NA 1000G EUROPEAN Jin et al.(2010) GWAS T Ankita
0000001048 ./. 6 g.30047403G>A chr6_000002 RNF39 rs4711209 IGV 1000G EUROPEAN Jin et al.(2010) GWAS A Ankita
0000001049 ./. 6 g.30055643G>T chr6_000003 RNF39-TRIM31 rs6909253 NA 1000G EUROPEAN Jin et al.(2010) GWAS G Ankita
0000001140 ./. 6 g.30064562_30064563del chr6_000004 RNF39-TRIM31 rs9261394 NA 1000G JAPANESE;EUROPEAN Jin et al.(2015);Jin et al.(2010) CANDIDATE, GWAS A;A Ankita
0000001108 ./. 6 g.30855251G>A DDR1_000002 DDR1 rs4618569 NA 1000G BRAZILIAN Silva et al.(2010) CANDIDATE T Ankita
0000001109 ./. 6 g.30865204A>C DDR1_000001 DDR1 rs2267641 NA 1000G BRAZILIAN Silva et al.(2010) CANDIDATE C Ankita
0000001019 ./. 6 g.31258837G>A chr6_000027 HLA-C-HLA-B rs9468925 NA 1000G HAN CHINESE;HAN CHINESE;HAN CHINESE Quan et al.(2010);Liu et al.(2012);Zhu et al.(2011) GWAS, CANDIDATE A;G;- Ankita
0000001094 ./. 6 g.31540071G>A LTA_000001 LTA rs1800683 NA 1000G EUROPEAN Birlea et al.(2010) CANDIDATE - Ankita
0000001163 ./. 6 g.31540313A>G LTA_000002 TNFB rs909253 IGV 1000G NA;SAUDI Laddha et al.(2013);Al et al.(2013) EXPRESSION, CANDIDATE -;G Ankita
0000001164 ./. 6 g.31540784C>A LTA_000003 TNFB rs1041981 IGV 1000G NA Laddha et al.(2013) EXPRESSION - Ankita
0000001153 ./. 6 g.31542308T>C chr6_000016 TNFA rs1799964 IGV 1000G INDIAN Laddha et al.(2012) EXPRESSION - Ankita
0000001152 ./. 6 g.31542476C>A chr6_000017 TNFA rs1800630 IGV 1000G INDIAN Laddha et al.(2012) EXPRESSION - Ankita
0000001151 ./. 6 g.31542482C>T chr6_000013 TNFA rs1799724 IGV 1000G INDIAN Laddha et al.(2012) EXPRESSION - Ankita
0000001150 ./. 6 g.31543031G>A chr6_000014 TNFA rs1800629 IGV 1000G INDIAN;SAUDI;IRANIAN;NA;MEXICAN Laddha et al.(2012);Al et al.(2013);Namain et al.(2008);Aydıngöz et al.(2015);Salinas et al.(2015) EXPRESSION, CANDIDATE -;A;A;A;A Ankita
0000001149 ./. 6 g.31543101G>A chr6_000001 TNFA rs361525 IGV 1000G INDIAN Laddha et al.(2012) EXPRESSION - Ankita
0000001018 ./. 6 g.31837066C>T SLC44A4_000001 HLA CLASS 3 rs11966200 IGV 1000G HAN CHINESE;HAN CHINESE Quan et al.(2010);Tang et al.(2013) GWAS, CANDIDATE A;A Ankita
0000001072 ./. 6 g.32194854G>A chr6_000029 NOTCH4 rs3096691 IGV 1000G INDIAN Birlea et al.(2013) CANDIDATE G Ankita
0000000991 ./. 6 g.32345283C>A chr6_000018 C6orf10-BTNL2 rs7758128 IGV 1000G EUROPEAN;EUROPEAN Jin et al.(2011);Jin et al.(2010) GWAS A;A Ankita
0000001067 ./. 6 g.32373698G>T chr6_000019 BTNL2-HLA-DRA rs3806156 NA 1000G EUROPEAN Jin et al.(2010) GWAS T Ankita
0000001071 ./. 6 g.32400939G>C chr6_000020 HLA-DRA rs3129859 NA 1000G INDIAN Birlea et al.(2013) CANDIDATE G Ankita
0000001050 ./. 6 g.32433167_32433168del chr6_000021 HLA-DRA-HLA-DRB5 rs2395185 NA 1000G EUROPEAN Jin et al.(2010) GWAS T Ankita
0000001051 ./. 6 g.32570400T>C chr6_000023 HLA-DRB1-HLA-DQA1 rs2516049 NA 1000G EUROPEAN Jin et al.(2010) GWAS G Ankita
0000001070 ./. 6 g.32576064G>C chr6_000024 HLA-DRB1-HLA-DQA1 rs482044 NA 1000G INDIAN Birlea et al.(2013) CANDIDATE G Ankita
0000000992 ./. 6 g.32578052G>A chr6_000025 HLA-DRB1-DQA1 rs532098 IGV 1000G EUROPEAN;EUROPEAN Jin et al.(2011);Jin et al.(2010) GWAS T;T Ankita
0000001258 ./. 6 g.32591291T>A chr6_000032 - rs9271597 - - - - - - Ankita
0000001052 ./. 6 g.32594103G>A chr6_000026 HLA-DQA1 rs34518860 NA 1000G EUROPEAN Jin et al.(2010) GWAS A Ankita
0000001259 ./. 6 g.32635312A>G chr6_000031 - rs9274579 - - - - - - Ankita
0000001129 ./. 6 g.32796751_32796752del TAP2_000003 TAP2 rs241447 IGV 1000G CAUCASIAN/EUROPEAN Casp et al.(2003) CANDIDATE - Ankita
0000001128 ./. 6 g.32800412C>T TAP2_000001 TAP2 rs1800454 IGV 1000G CAUCASIAN/EUROPEAN Casp et al.(2003) CANDIDATE - Ankita
0000001092 ./. 6 g.32804798G>A TAP2_000002 TAP1-PSMB8 rs3819721 NA 1000G EUROPEAN Birlea et al.(2010) CANDIDATE - Ankita
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