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: rs558702
rs558702
C2 ; CYP21A2 ; ZBTB12
6 0.807 0.320 6 31902549 intron variant G/A snv 7.7E-02 0.700 1.000 1 2012 2012
dbSNP: rs2233956
rs2233956
C6orf15 ; PSORS1C1
5 0.827 0.320 6 31113428 upstream gene variant T/C snv 0.12 0.700 1.000 1 2012 2012
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: 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: rs16862847
rs16862847
CHRNA1
1 1.000 0.120 2 174764872 intron variant T/C snv 0.14 0.010 1.000 1 2017 2017
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: rs3130618
rs3130618
CSNK2B ; GPANK1
7 0.827 0.360 6 31664357 missense variant C/A;T snv 0.15; 4.0E-06 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: 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: 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: 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: 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: rs1235162
rs1235162
GABBR1
6 0.827 0.280 6 29569447 intron variant A/G snv 6.0E-02 0.700 1.000 1 2012 2012
dbSNP: rs204990
rs204990
GPSM3
4 0.851 0.280 6 32193653 intron variant C/A;T snv 0.700 1.000 1 2012 2012
dbSNP: rs3130380
rs3130380
HCG18 ; HCG17
10 0.807 0.280 6 30311353 intron variant G/A snv 6.6E-02 0.700 1.000 1 2012 2012
dbSNP: rs150881176
rs150881176
HLA-A
1 1.000 0.120 6 29979963 downstream gene variant T/C snv 0.700 1.000 1 2016 2016
dbSNP: rs2524005
rs2524005
HLA-A
5 0.882 0.160 6 29931900 upstream gene variant G/A snv 0.18 0.700 1.000 1 2012 2012
dbSNP: rs3132685
rs3132685
HLA-A ; HCG9
6 0.807 0.320 6 29978172 intron variant G/A;T snv 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
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: rs9270986
rs9270986
HLA-DRB1
3 0.882 0.160 6 32606283 intergenic variant A/C snv 0.85 0.700 1.000 1 2015 2015
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: rs11575936
rs11575936
IFNGR1
4 0.851 0.200 6 137219288 missense variant C/T snv 1.3E-03 4.1E-04 0.010 1.000 1 2018 2018
dbSNP: rs6679356
rs6679356
IL12RB2
2 0.925 0.200 1 67354511 intron variant C/T snv 0.75 0.010 1.000 1 2018 2018
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