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: rs4149584
rs4149584
TNFRSF1A
24 0.683 0.440 12 6333477 missense variant C/G;T snv 4.0E-06; 1.3E-02 0.030 1.000 3 2006 2013
dbSNP: rs121908147
rs121908147
NLRP3
7 0.807 0.280 1 247424041 missense variant G/A;C snv 8.3E-03; 4.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs141389711
rs141389711
NLRP3
1 1.000 0.040 1 247434206 missense variant G/A snv 8.4E-05 6.3E-05 0.010 1.000 1 2013 2013
dbSNP: rs1423560438
rs1423560438
TNFAIP3
3 0.882 0.080 6 137875748 stop gained C/T snv 0.010 1.000 1 2019 2019
dbSNP: rs28940578
rs28940578
MEFV
16 0.716 0.400 16 3243405 missense variant C/T snv 1.4E-04 6.3E-05 0.010 1.000 1 2013 2013
dbSNP: rs750572947
rs750572947
PSTPIP1
1 1.000 0.040 15 77037147 missense variant G/A snv 1.1E-04 7.0E-05 0.010 < 0.001 1 2019 2019
dbSNP: rs779189628
rs779189628
CASP8
2 0.925 0.120 2 201284885 missense variant A/G snv 4.0E-06 0.010 1.000 1 2006 2006