Confirmed RA variants

List of RA associated SNPs/variants that were reproduced by independent studies. The association results of the genetic variant listed here is a result of the study using the largest samples and satisfied the P value < 0.05 and 1.0 x 10-5 for candidate gene association studies and genome-wide association studies, respectively. To see all association results of the particular variant or gene, click the name of the variant or gene.

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Reproducibility:
Inter-population
Intra-population


Population:


Gene(s):

(e.g., HLA, STAT4)


refSNP(s):

(e.g., rs13192471)


1 to 123 of 123.
DetailReproducibilityEthnic
population
GenesGenetic variant (allele)Allele
P value
Odds
ratio
EAF
case / ctrl
Inter-population European HLA-DRB1 [29/34] rs6457617 (T) [2/2] 3.44e-76    0.69 / 0.49
Inter-population East Asian HLA-DRB1 [23/36] rs13192471 (G) [2/2] 1.9e-58  1.97  0.36 / 0.22
Inter-population East Asian STAT4 [13/18] rs7574865 (T) [6/9] 1.8e-06  1.17  0.36 / 0.33
Inter-population East Asian OLIG3, TNFAIP3 [7/10] rs2230926 (C) [3/3] 1.6e-06  1.31  0.09 / 0.07
Inter-population European HLA-DRB1 [29/34] rs6910071 (G) [2/2] 1e-299  2.88  0.44 / 0.22
Inter-population European CCR6 [2/2] rs3093023 (A) [2/2] 1.5e-11  1.12  0.47 / 0.43
Inter-population European SPRED2 [2/2] rs934734 (G) [2/2] 5.3e-10  1.13  0.50 / 0.49
Inter-population European IL2, IL21 [7/18] rs13119723 (G) [2/4] 6.8e-07  0.88  0.14 / 0.16
Inter-population European IKZF3 [2/4] rs2872507 (A) [2/4] 9.4e-07  1.09  0.48 / 0.47
Inter-population East Asian HLA-DRB1 [23/36] rs2516049 (C) [1/1] 3.6e-31  2.18  0.38 / 0.22
Inter-population European CTLA4, ICOS [11/17] rs231775 (-) [1/2] 0.009  1.07  0.39 / 0.38
Inter-population European IL2RA [6/11] rs2104286 (-) [2/4] 2.48e-05  0.91  0.25 / 0.27
Inter-population European OLIG3, TNFAIP3 [19/27] rs5029937 (-) [2/2] 4.62e-10  1.42  0.05 / 0.03
Inter-population European IL2, IL21 [7/18] rs6822844 (-) [4/7] 5.89e-08  0.88  0.16 / 0.18
Inter-population European STAT4 [12/13] rs7574865 (-) [12/12] 2.99e-15  1.18  0.25 / 0.22
Inter-population European APOM [8/8] rs805297 (A) [1/1] 1.49e-16    /
Inter-population European HLA-DRB1 [29/34] rs2516049 (C) [1/1] 1.64e-42    /
Inter-population European HLA-DRB1 [29/34] rs660895 (G) [1/1] 5.83e-53    /
Inter-population Latin American IL2, IL21 [1/1] rs6822844 (-) [1/1] 0.019  0.61  0.06 / 0.10
Inter-population East Asian APOM [3/44] rs805297 (A) [2/2] 6.65e-05  1.40  0.45 / 0.36
Inter-population East Asian HLA-DRB1 [23/36] rs2157337 (C) [1/1] 2.6e-118  1.99  0.59 / 0.44
Inter-population East Asian CCR6 [5/8] rs3093023 (A) [1/2] 2.1e-17  1.27  0.52 / 0.46
Inter-population East Asian OLIG3, TNFAIP3 [7/10] rs5029937 (T) [1/1] 3.9e-09  1.33  0.09 / 0.07
Inter-population East Asian SPRED2 [1/2] rs934734 (G) [1/2] 3.2e-07  1.19  0.19 / 0.16
Inter-population European HLA-DRB1 [29/34] rs2157337 (C) [2/2] 1e-299  2.50  0.69 / 0.46
Inter-population African American IKZF3 [1/1] rs2872507 (G) [1/1] 0.006  0.79  0.71 / 0.76
Inter-population East Asian ZEB1 [1/2] rs2793108 (T) [1/2] 0.001  1.11  0.58 / 0.55
Inter-population East Asian IKZF3 [2/2] rs2872507 (G) [2/2] 0.003  0.91  0.72 / 0.74
Inter-population South Asian IL2, IL21 [1/1] rs13119723 (G) [1/1] 0.008  0.75  /
Inter-population South Asian HLA-DRB1 [4/4] rs6910071 (-) [1/1] 0.04  1.27  /
Inter-population South Asian HLA-DRB1 [4/4] rs660895 (G) [1/1] 2.56e-05  1.52  /
Inter-population South Asian HLA-DRB1 [4/4] rs6457617 (A) [1/1] 1.6e-09  1.48  /
Inter-population South Asian HLA-DRB1 [4/4] rs13192471 (G) [1/1] 6.7e-16  2.16  /
Inter-population South Asian IL2RA [4/9] rs2104286 (G) [1/1] 0.00019  0.73  /
Inter-population South Asian ZEB1 [1/1] rs2793108 (C) [1/1] 0.006  0.84  /
Inter-population East Asian CTLA4, ICOS [5/7] rs231775 (G) [2/2] 0.002  1.18  /
Inter-population Latin American CTLA4, ICOS [1/1] rs231775 (G) [1/1] 0.01  1.45  /
Inter-population African American OLIG3, TNFAIP3 [1/3] rs2230926 (-) [1/1] 0.032  1.85  /
Inter-population East Asian IL6 [1/1] rs1800795 (G) [1/1] 1e-08  0.07  /
Inter-population Iranian IL6 [1/1] rs1800795 (G) [1/1] 7.4e-05  0.46  /
Intra-population European HLA-DRB1 [29/34] rs6457620 (G) [2/2] 3.6e-186  2.55  0.72 / 0.50
Intra-population European PTPN22 [17/22] rs6679677 (-) [2/2] 5.7e-42  1.79  0.17 / 0.10
Intra-population European CD40 [9/9] rs1569723 (C) [2/2] 3.2e-07  0.83  0.22 / 0.25
Intra-population European MMEL1, TNFRSF14 [8/8] rs6684865 (G) [2/2] 5.9e-06  0.86  0.30 / 0.33
Intra-population European CDK6 [2/5] rs42041 (G) [2/5] 4e-06  1.11  0.28 / 0.25
Intra-population European C5, TRAF1 [18/25] rs10985073 (A) [2/2] 9.1e-11  1.26  /
Intra-population European C5, TRAF1 [18/25] rs881375 (A) [2/2] 5.48e-10  1.26  /
Intra-population European C5, TRAF1 [18/25] rs7037673 (A) [2/2] 4.6e-08  0.84  /
Intra-population European REL [9/9] rs13017599 (A) [3/3] 2.6e-12  1.21  0.39 / 0.34
Intra-population European CTLA4, ICOS [11/17] rs231735 (G) [2/2] 6.25e-09  0.86  0.44 / 0.49
Intra-population East Asian CCR6 [5/8] rs3093024 (T) [3/4] 7.7e-19  1.19  0.51 / 0.46
Intra-population European C5, TRAF1 [18/25] rs3761847 (G) [4/5] 2.1e-07  1.13  0.46 / 0.43
Intra-population European AFF3 [6/6] rs10865035 (A) [2/2] 2e-06  1.12  0.50 / 0.47
Intra-population European RBPJ [2/2] rs874040 (C) [2/2] 1e-16  1.16  0.34 / 0.30
Intra-population European AFF3 [6/6] rs11676922 (T) [2/2] 1e-14  1.14  0.49 / 0.46
Intra-population European ANKRD55, IL6ST [2/2] rs6859219 (A) [2/2] 9.6e-12  0.81  0.19 / 0.21
Intra-population European IL2RA [6/11] rs706778 (T) [2/2] 1.4e-11  1.12  0.44 / 0.41
Intra-population European IRF5 [5/9] rs10488631 (C) [3/3] 4.2e-11  1.21  0.13 / 0.11
Intra-population European CCL21 [6/8] rs951005 (G) [2/2] 3.9e-10  0.86  0.14 / 0.16
Intra-population European C5orf30 [2/2] rs26232 (T) [2/2] 4.1e-08  0.90  0.30 / 0.32
Intra-population European PXK [2/2] rs13315591 (C) [2/2] 4.6e-08  1.20  0.10 / 0.09
Intra-population European BATF [2/2] rs7155603 (G) [2/2] 1.1e-07  1.14  0.22 / 0.20
Intra-population European UBASH3A [4/5] rs11203203 (A) [4/5] 3.8e-06  1.09  0.39 / 0.37
Intra-population European SH2B, SH2B3 [3/4] rs3184504 (C) [3/4] 6e-06  0.93  0.49 / 0.49
Intra-population European DDX6 [2/2] rs10892279 (-) [2/2] 1.1e-08  0.87  /
Intra-population European C5, TRAF1 [18/25] rs1953126 (-) [3/3] 5e-09  1.13  /
Intra-population European CD2, CD58, IGSF2 [3/4] rs11586238 (G) [3/4] 1e-09  1.13  0.26 / 0.23
Intra-population European CD28 [2/4] rs1980422 (C) [2/4] 1.3e-09  1.13  0.26 / 0.23
Intra-population European C1QTNF6, IL2RB [2/4] rs743777 (-) [2/4] 1.44e-06  1.25  0.33 / 0.31
Intra-population European CD226 [2/3] rs763361 (-) [2/3] 0.009  1.06  0.48 / 0.47
Intra-population European AFF3 [6/6] rs1160542 (-) [2/2] 1.15e-07  1.11  0.48 / 0.46
Intra-population European KIF5A, PIP4K2C [3/4] rs1678542 (-) [3/4] 3.64e-09  0.90  0.35 / 0.37
Intra-population European PTPN22 [17/22] rs2476601 (A) [10/11] 2.3e-98  1.60  0.15 / 0.10
Intra-population European CCL21 [6/8] rs2812378 (-) [4/6] 7.79e-07  1.09  0.36 / 0.34
Intra-population European C5, TRAF1 [18/25] rs2900180 (-) [2/2] 6.5e-13  1.15  0.38 / 0.34
Intra-population European CTLA4, ICOS [11/17] rs3087243 (-) [7/10] 4.08e-08  0.90  0.42 / 0.45
Intra-population European PRKCQ [4/5] rs4750316 (-) [3/4] 1.54e-07  0.90  0.18 / 0.19
Intra-population European CD40 [9/9] rs4810485 (-) [6/6] 6.07e-10  0.89  0.23 / 0.25
Intra-population European OLIG3, TNFAIP3 [19/27] rs6920220 (-) [10/11] 1.08e-15  1.18  0.23 / 0.20
Intra-population European PODXL [2/2] rs11761231 (-) [2/2] 0.042  0.94  0.35 / 0.36
Intra-population European HLA-DPB1 [8/8] rs3117222 (T) [2/2] 3.83e-07    /
Intra-population European HLA-DPB1 [8/8] rs2295118 (T) [2/2] 3.75e-08    /
Intra-population European HLA-DPB1 [8/8] rs9277378 (G) [2/2] 3.09e-08    /
Intra-population European HLA-DPB1 [8/8] rs9277463 (T) [2/2] 4.36e-09    /
Intra-population European HLA-DRA [6/6] rs2395178 (G) [2/2] 7.57e-15    /
Intra-population European HLA-DRA [6/6] rs2395173 (A) [2/2] 5.88e-15    /
Intra-population European C6orf10 [2/2] rs9296021 (T) [2/2] 1.71e-26    /
Intra-population European HLA-DRA [6/6] rs2227139 (G) [2/2] 8.41e-39    /
Intra-population European HLA-DRB1 [29/34] rs9268614 (G) [3/3] 3.56e-50    /
Intra-population European FCGR3B [4/6] FCGR3B CN < 2 (2) [2/4] 0.00012  1.67  0.10 / 0.06
Intra-population European REL [9/9] rs13031237 (-) [5/5] 1.53e-17  1.21  /
Intra-population East Asian AIRE [7/9] rs2075876 (A) [4/5] 3.6e-09  1.18  0.38 / 0.34
Intra-population East Asian AIRE [7/9] rs760426 (G) [3/4] 4.4e-08  1.16  0.39 / 0.36
Intra-population East Asian NFKBIE [8/8] rs2233434 (G) [8/8] 5.8e-19  1.19  /
Intra-population East Asian ARID5B [4/5] rs10821944 (G) [4/5] 5.5e-18  1.16  /
Intra-population East Asian PTPN2 [4/8] rs2847297 (G) [3/5] 2.2e-08  1.10  /
Intra-population East Asian B3GNT2 [3/4] rs11900673 (T) [3/4] 1.1e-08  1.11  /
Intra-population East Asian ANXA3 [4/4] rs2867461 (A) [4/4] 1.2e-12  1.13  /
Intra-population East Asian CD83 [4/4] rs12529514 (C) [4/4] 2e-08  1.14  /
Intra-population East Asian PRKCB1 [2/4] rs7404928 (T) [2/4] 4e-06  1.08  /
Intra-population East Asian ETS1, FLI1 [3/9] rs4937362 (T) [2/5] 7.5e-07  1.09  /
Intra-population East Asian CSF2 [2/4] rs657075 (A) [2/4] 2.8e-10  1.12  /
Intra-population East Asian PRKCH [3/8] rs1957895 (G) [2/4] 3.6e-07  1.09  /
Intra-population East Asian ZNF774 [2/4] rs6496667 (A) [2/4] 1.4e-06  1.09  /
Intra-population East Asian GCH1 [2/4] rs3783637 (C) [2/4] 2e-06  1.10  /
Intra-population East Asian IRF8 [2/4] rs2280381 (T) [2/4] 2.4e-06  1.12  /
Intra-population East Asian EXOC2, IRF4 [2/4] rs9405675 (A) [2/4] 9.6e-06  1.08  /
Intra-population East Asian PLD4 [3/4] rs2841277 (T) [3/4] 1.9e-14  1.15  /
Intra-population East Asian ARAP1, PDE2A [3/4] rs3781913 (T) [3/4] 5.8e-10  1.12  /
Intra-population European FCGR3B [4/6] FCGR3B <2 (-) [2/2] 0.004  1.47  /
Intra-population East Asian OLIG3, TNFAIP3 [7/10] rs10499194 (-) [2/3] 0.00067  1.25  /
Intra-population East Asian CDH6, LOC100128783 [3/4] rs4394137 (C) [3/4] 0.001  1.10  /
Intra-population East Asian MN1 [3/4] rs723184 (T) [3/4] 0.00012  1.12  /
Intra-population East Asian STAT4 [13/18] rs10168266 (A) [4/5] 3.2e-08  1.16  /
Intra-population East Asian TRPC6 [2/3] rs4520564 (T) [2/3] 0.05  1.05  /
Intra-population East Asian ENOX1 [2/3] rs9533469 (T) [2/3] 1.7e-05  1.19  /
Intra-population East Asian TNFAIP3 [2/4] rs679670 (G) [2/3] 6.1e-06  1.16  /
Intra-population East Asian VPS18 [2/3] rs8024138 (T) [2/3] 1.3e-05  1.19  /
Intra-population East Asian PFKL [2/3] rs4350841 (C) [2/3] 1.4e-06  1.13  /
Intra-population East Asian RTKN2 [2/3] rs3125734 (T) [2/3] 3.7e-08  1.23  /
Intra-population European C5, TRAF1 [18/25] rs7026551 (-) [2/2] 2e-08  1.31  /
Intra-population European PTPRC [2/6] rs10919563 (G) [2/6] 6.27e-06    /
Intra-population European MMEL1, TNFRSF14 [8/8] rs3890745 (T) [5/5] 5.28e-07    /