Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.740 1.000 5 2008 2015
dbSNP: rs231775
rs231775
CTLA4
115 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.020 0.500 2 2018 2019
dbSNP: rs1801394
rs1801394
MTRR ; FASTKD3
101 0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45 0.010 1.000 1 2018 2018
dbSNP: rs7574865
rs7574865
STAT4
59 0.574 0.720 2 191099907 intron variant T/G snv 0.79 0.010 1.000 1 2018 2018
dbSNP: rs1801275
rs1801275
IL4R
58 0.581 0.680 16 27363079 missense variant A/G snv 0.25 0.36 0.010 < 0.001 1 2018 2018
dbSNP: rs1883832
rs1883832
CD40
52 0.581 0.680 20 46118343 5 prime UTR variant T/C snv 0.75 0.80 0.010 < 0.001 1 2017 2017
dbSNP: rs3087243
rs3087243
CTLA4
44 0.623 0.720 2 203874196 downstream gene variant G/A snv 0.37 0.020 0.500 2 2018 2019
dbSNP: rs11558538
rs11558538
HNMT ; LOC107985948
19 0.695 0.400 2 138002079 missense variant C/T snv 1.0E-01 8.4E-02 0.010 1.000 1 2013 2013
dbSNP: rs2187668
rs2187668
HLA-DQA1 ; HLA-DQA2 ; LOC107986589
20 0.701 0.480 6 32638107 intron variant C/T snv 3.3E-03 0.700 1.000 1 2012 2012
dbSNP: rs3099844
rs3099844
MICB-DT
13 0.732 0.400 6 31481199 non coding transcript exon variant C/A snv 0.11 0.700 1.000 1 2012 2012
dbSNP: rs1270942
rs1270942
CFB ; CYP21A2
11 0.742 0.440 6 31951083 non coding transcript exon variant A/G snv 7.5E-02 0.700 1.000 1 2012 2012
dbSNP: rs3087456
rs3087456
CIITA ; LOC105371080
14 0.742 0.480 16 10877045 intron variant G/A snv 0.53 0.010 1.000 1 2010 2010
dbSNP: rs8321
rs8321
ZNRD1
16 0.742 0.320 6 30064745 3 prime UTR variant A/C snv 5.4E-02 5.9E-02 0.700 1.000 1 2012 2012
dbSNP: rs1805010
rs1805010
IL4R
12 0.752 0.400 16 27344882 missense variant A/C;G;T snv 0.45 0.020 0.500 2 2012 2018
dbSNP: rs1569686
rs1569686
DNMT3B
15 0.752 0.400 20 32779273 intron variant G/A;C;T snv 0.010 1.000 1 2013 2013
dbSNP: rs3131379
rs3131379
MSH5 ; MSH5-SAPCD1
10 0.752 0.440 6 31753256 intron variant G/A snv 6.4E-02 7.9E-02 0.700 1.000 1 2012 2012
dbSNP: rs733618
rs733618
CTLA4
12 0.763 0.440 2 203866221 upstream gene variant T/C snv 0.10 0.030 0.667 3 2017 2019
dbSNP: rs1980493
rs1980493
BTNL2 ; TSBP1-AS1
10 0.776 0.400 6 32395438 intron variant T/C snv 0.13 0.700 1.000 1 2012 2012
dbSNP: rs389884
rs389884
CYP21A2 ; DXO ; STK19
10 0.776 0.440 6 31973120 non coding transcript exon variant A/G snv 7.1E-02 0.700 1.000 1 2012 2012
dbSNP: rs886424
rs886424
LINC00243
10 0.776 0.320 6 30814225 non coding transcript exon variant C/T snv 7.1E-02 8.7E-02 0.700 1.000 1 2012 2012
dbSNP: rs2855812
rs2855812
MICB
13 0.790 0.360 6 31504943 intron variant G/T snv 0.23 0.700 1.000 1 2012 2012
dbSNP: rs3130564
rs3130564
PSORS1C1
7 0.790 0.360 6 31133897 intron variant C/T snv 0.14 0.700 1.000 1 2012 2012
dbSNP: rs3132580
rs3132580
MUCL3 ; SFTA2 ; HCG21
7 0.790 0.360 6 30952347 missense variant G/A snv 8.0E-02 9.3E-02 0.700 1.000 1 2012 2012
dbSNP: rs7775397
rs7775397
TSBP1 ; TSBP1-AS1
7 0.790 0.400 6 32293475 missense variant T/G snv 6.0E-02 6.4E-02 0.700 1.000 1 2012 2012
dbSNP: rs9277534
rs9277534
HLA-DPB1
7 0.790 0.280 6 33087030 3 prime UTR variant A/G snv 0.38 0.010 1.000 1 2019 2019