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: rs12980275
rs12980275 		23 0.701 0.360 19 39241143 upstream gene variant A/G snv 0.36 0.010 1.000 1 2017 2017
dbSNP: rs1818879
rs1818879 		7 0.827 0.120 7 22733108 downstream gene variant G/A;C snv 0.010 1.000 1 2015 2015
dbSNP: rs4273729
rs4273729 		5 0.851 0.240 6 32710820 upstream gene variant C/A;G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs8099917
rs8099917 		60 0.581 0.600 19 39252525 upstream gene variant T/G snv 0.16 0.010 1.000 1 2013 2013
dbSNP: rs2287622
rs2287622
ABCB11
16 0.724 0.240 2 168973818 missense variant A/C;G;T snv 0.57 0.010 1.000 1 2017 2017
dbSNP: rs3789679
rs3789679
AGT
4 0.925 0.120 1 230713948 intron variant G/A;T snv 0.010 1.000 1 2013 2013
dbSNP: rs179363879
rs179363879
AIRE
3 0.925 0.160 21 44286092 missense variant T/C snv 0.010 1.000 1 2007 2007
dbSNP: rs1800477
rs1800477
BCL2
12 0.763 0.480 18 63318540 missense variant C/T snv 1.8E-02 4.9E-03 0.010 1.000 1 2011 2011
dbSNP: rs4804803
rs4804803
CD209
15 0.732 0.360 19 7747847 upstream gene variant A/G snv 0.26 0.020 1.000 2 2012 2014
dbSNP: rs4553808
rs4553808
CTLA4
28 0.672 0.320 2 203866282 upstream gene variant A/G;T snv 0.16 0.010 1.000 1 2013 2013
dbSNP: rs139226823
rs139226823
CXCR3
1 X 71616597 missense variant C/G;T snv 5.5E-06; 5.7E-04 0.010 1.000 1 2018 2018
dbSNP: rs12212067
rs12212067
FOXO3
20 0.716 0.320 6 108659993 intron variant T/G snv 0.14 0.010 1.000 1 2018 2018
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1.000 1 2020 2020
dbSNP: rs371194629
rs371194629
HLA-G
8 0.790 0.320 6 29830804 3 prime UTR variant -/ATTTGT;ATTTGTTCACGCCT;ATTTGTTCATGCCT ins 0.010 1.000 1 2016 2016
dbSNP: rs11614913
rs11614913
HOXC6 ; MIR196A2
111 0.512 0.760 12 53991815 mature miRNA variant C/T snv 0.39 0.34 0.010 1.000 1 2017 2017
dbSNP: rs1990760
rs1990760
IFIH1
33 0.672 0.480 2 162267541 missense variant C/T snv 0.50 0.45 0.010 1.000 1 2017 2017
dbSNP: rs12252
rs12252
IFITM3
23 0.695 0.240 11 320772 splice region variant A/G snv 0.13 0.13 0.040 1.000 4 2013 2018
dbSNP: rs1480480967
rs1480480967
IFNA13
2 1.000 0.080 9 21367884 missense variant C/T snv 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs12979860
rs12979860
IFNL4
84 0.547 0.520 19 39248147 intron variant C/T snv 0.39 0.020 1.000 2 2010 2017
dbSNP: rs16944
rs16944
IL1B
92 0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57 0.010 1.000 1 2015 2015
dbSNP: rs3136558
rs3136558
IL1B
4 1.000 2 112833698 intron variant A/G snv 0.21 0.010 1.000 1 2015 2015
dbSNP: rs1364498756
rs1364498756
IRF9
1 14 24166173 missense variant G/A snv 0.010 1.000 1 2017 2017
dbSNP: rs12487066
rs12487066
LOC105374027
2 1.000 0.080 3 106193283 intron variant T/C snv 0.28 0.010 1.000 1 2014 2014
dbSNP: rs7269320
rs7269320
MAVS
1 20 3865750 missense variant C/T snv 0.16 0.21 0.010 1.000 1 2019 2019
dbSNP: rs17886084
rs17886084
MMP1 ; WTAPP1
2 1.000 0.080 11 102799765 intron variant C/- delins 0.010 1.000 1 2013 2013