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: rs757537938
rs757537938
C2 ; CYP21A2 ; C2-AS1
3 0.882 0.200 6 31943672 missense variant A/C snv 4.1E-06 0.010 1.000 1 2012 2012
dbSNP: rs1805011
rs1805011
IL4R
8 0.776 0.320 16 27362551 missense variant A/C;G;T snv 0.13; 1.2E-04; 3.6E-05 0.010 1.000 1 2018 2018
dbSNP: rs3077
rs3077
HLA-DPA1
16 0.701 0.440 6 33065245 3 prime UTR variant A/G snv 0.29 0.050 0.600 5 2011 2014
dbSNP: rs9277535
rs9277535
HLA-DPB1
13 0.724 0.440 6 33087084 3 prime UTR variant A/G snv 0.25 0.040 1.000 4 2011 2018
dbSNP: rs3130542
rs3130542 		8 0.827 0.160 6 31264334 downstream gene variant A/G snv 0.81 0.020 1.000 2 2015 2016
dbSNP: rs5744174
rs5744174
TLR5
13 0.742 0.360 1 223111186 missense variant A/G snv 0.39 0.34 0.020 1.000 2 2017 2018
dbSNP: rs1061624
rs1061624
TNFRSF1B
8 0.776 0.320 1 12207208 3 prime UTR variant A/G snv 0.48 0.010 1.000 1 2018 2018
dbSNP: rs120074192
rs120074192
KCNQ1
10 0.763 0.120 11 2527959 missense variant A/G snv 0.010 1.000 1 2007 2007
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: 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: rs2274567
rs2274567
CR1
10 0.776 0.400 1 207580276 missense variant A/G snv 0.25 0.21 0.010 1.000 1 2019 2019
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: rs2532932
rs2532932 		2 0.925 0.160 6 30927667 downstream gene variant A/G snv 0.74 0.010 1.000 1 2015 2015
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: rs4711998
rs4711998
IL17A
16 0.708 0.360 6 52185555 upstream gene variant A/G snv 0.64 0.010 1.000 1 2017 2017
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: rs652888
rs652888
CYP21A2 ; EHMT2 ; EHMT2-AS1 ; LOC107986588
10 0.776 0.480 6 31883457 non coding transcript exon variant A/G snv 0.18 0.20 0.010 1.000 1 2019 2019
dbSNP: rs709816
rs709816
NBN
10 0.752 0.320 8 89955483 synonymous variant A/G snv 0.47 0.51 0.010 1.000 1 2018 2018
dbSNP: rs8177832
rs8177832
APOBEC3G
5 0.851 0.160 22 39081561 missense variant A/G snv 5.9E-02 0.14 0.010 1.000 1 2017 2017
dbSNP: rs9275319
rs9275319 		6 0.807 0.200 6 32698518 intergenic variant A/G snv 0.15 0.010 1.000 1 2015 2015
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
dbSNP: rs9808753
rs9808753
IFNGR2
17 0.701 0.400 21 33415005 missense variant A/G snv 0.20 0.18 0.010 1.000 1 2014 2014
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: rs414171
rs414171
CISH ; MAPKAPK3
9 0.790 0.200 3 50612068 5 prime UTR variant A/G;T snv 0.010 1.000 1 2014 2014