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: rs1433372015
rs1433372015
STING1
2 0.925 0.040 5 139480855 missense variant T/C snv 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs180177468
rs180177468
NLRP3
2 0.925 0.080 1 247424369 missense variant G/T snv 0.010 1.000 1 2006 2006
dbSNP: rs184429527
rs184429527
SERPINB9 ; LOC101927730
1 1.000 6 2890309 missense variant C/A;T snv 8.7E-04; 2.4E-05 0.010 1.000 1 2016 2016
dbSNP: rs397514562
rs397514562
PLCG2
2 0.925 0.040 16 81919549 missense variant C/A snv 0.010 1.000 1 2015 2015
dbSNP: rs4149584
rs4149584
TNFRSF1A
24 0.683 0.440 12 6333477 missense variant C/G;T snv 4.0E-06; 1.3E-02 0.010 1.000 1 2011 2011
dbSNP: rs4986790
rs4986790
TLR4
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs4986791
rs4986791
TLR4
182 0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02 0.010 1.000 1 2013 2013
dbSNP: rs587777609
rs587777609
STING1
4 0.851 0.040 5 139480849 missense variant T/C snv 0.010 1.000 1 2019 2019
dbSNP: rs587781260
rs587781260
NLRC4
3 0.882 0.080 2 32250842 missense variant A/G snv 0.010 1.000 1 2019 2019
dbSNP: rs606231460
rs606231460
NLRC4
3 0.882 0.080 2 32250536 missense variant T/G snv 0.010 1.000 1 2019 2019