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: rs7574865
rs7574865
STAT4
59 0.574 0.720 2 191099907 intron variant T/G snv 0.79 0.060 1.000 6 2013 2019
dbSNP: rs12979860
rs12979860
IFNL4
84 0.547 0.520 19 39248147 intron variant C/T snv 0.39 0.040 1.000 4 2013 2019
dbSNP: rs10069690
rs10069690
TERT
53 0.595 0.560 5 1279675 intron variant C/T snv 0.36 0.010 1.000 1 2018 2018
dbSNP: rs10465885
rs10465885
GJA5 ; LOC102723321
4 0.882 0.080 1 147760632 intron variant T/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs12508721
rs12508721
IL21-AS1
11 0.742 0.360 4 122623509 intron variant C/T snv 0.24 0.010 1.000 1 2017 2017
dbSNP: rs13419896
rs13419896
EPAS1
8 0.776 0.240 2 46329206 intron variant G/A snv 0.10 0.010 1.000 1 2016 2016
dbSNP: rs17401966
rs17401966
KIF1B
7 0.790 0.280 1 10325413 intron variant A/G snv 0.24 0.010 1.000 1 2012 2012
dbSNP: rs179009
rs179009
TLR7
2 0.925 0.160 X 12885361 intron variant A/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs1800469
rs1800469
TGFB1 ; B9D2
78 0.547 0.760 19 41354391 intron variant A/G snv 0.69 0.010 1.000 1 2017 2017
dbSNP: rs2072906
rs2072906
PNPLA3
4 0.851 0.160 22 43937292 intron variant A/G snv 0.25 0.20 0.010 1.000 1 2015 2015
dbSNP: rs2221903
rs2221903
IL21 ; IL21-AS1
12 0.752 0.360 4 122617757 intron variant C/T snv 0.77 0.010 1.000 1 2018 2018
dbSNP: rs2242652
rs2242652
TERT
16 0.724 0.400 5 1279913 intron variant G/A snv 0.18 0.010 1.000 1 2018 2018
dbSNP: rs2280883
rs2280883
FOXP3
9 0.827 0.280 X 49252667 intron variant T/C snv 0.30 0.010 1.000 1 2013 2013
dbSNP: rs2284553
rs2284553
IFNGR2
9 0.776 0.240 21 33404389 intron variant A/G snv 0.69 0.010 < 0.001 1 2014 2014
dbSNP: rs2293152
rs2293152
STAT3
10 0.763 0.480 17 42329511 intron variant G/A;C;T snv 2.8E-05; 0.59; 1.6E-05 0.010 1.000 1 2015 2015
dbSNP: rs303218
rs303218
IFIT1 ; LIPA
1 1.000 0.080 10 89392836 intron variant G/A snv 0.18 0.010 1.000 1 2016 2016
dbSNP: rs35875104
rs35875104
CYP21A2 ; EHMT2
1 1.000 0.080 6 31888517 intron variant T/C snv 3.0E-02 3.0E-02 0.010 1.000 1 2019 2019
dbSNP: rs3761549
rs3761549
FOXP3
18 0.724 0.480 X 49260888 intron variant G/A snv 9.6E-02 0.010 1.000 1 2013 2013
dbSNP: rs4646536
rs4646536
CYP27B1
14 0.724 0.440 12 57764205 intron variant A/G snv 0.38 0.32 0.010 1.000 1 2017 2017
dbSNP: rs4823173
rs4823173
PNPLA3
8 0.827 0.200 22 43932850 intron variant G/A snv 0.24 0.18 0.010 1.000 1 2015 2015
dbSNP: rs5743836
rs5743836
TLR9
31 0.658 0.440 3 52226766 intron variant A/G snv 0.20 0.010 1.000 1 2018 2018
dbSNP: rs6715787
rs6715787
EPAS1
4 0.851 0.200 2 46349033 intron variant C/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs7453920
rs7453920
HLA-DQB2
10 0.752 0.440 6 32762235 intron variant A/G;T snv 0.010 1.000 1 2011 2011
dbSNP: rs907715
rs907715
IL21
11 0.752 0.520 4 122613898 intron variant C/T snv 0.35 0.010 1.000 1 2018 2018
dbSNP: rs9277378
rs9277378
HLA-DPA1 ; HLA-DPB1
5 0.827 0.320 6 33082502 intron variant A/G snv 0.40 0.010 1.000 1 2014 2014