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: rs121908146
rs121908146
NLRP3
4 0.851 0.120 1 247424765 missense variant C/T snv 0.710 1.000 6 2001 2016
dbSNP: rs121908153
rs121908153
NLRP3
4 0.882 0.080 1 247424356 missense variant G/A;C snv 0.710 1.000 5 2002 2014
dbSNP: rs151344629
rs151344629
NLRP3
4 0.851 0.200 1 247424492 missense variant C/T snv 0.700 1.000 10 2002 2016
dbSNP: rs28937896
rs28937896
NLRP3
6 0.807 0.120 1 247424507 missense variant T/C snv 0.700 1.000 2 2003 2005
dbSNP: rs180177458
rs180177458
NLRP3
1 1.000 0.080 1 247425022 missense variant G/A snv 0.700 1.000 1 2005 2005
dbSNP: rs121908147
rs121908147
NLRP3
7 0.807 0.280 1 247424041 missense variant G/A;C snv 8.3E-03; 4.0E-06 0.020 1.000 2 2007 2013
dbSNP: rs35829419
rs35829419
NLRP3
23 0.689 0.560 1 247425556 missense variant C/A snv 3.9E-02 3.3E-02 0.020 1.000 2 2013 2016
dbSNP: rs121908150
rs121908150
NLRP3
5 0.851 0.080 1 247424227 stop gained C/T snv 0.010 1.000 1 2014 2014
dbSNP: rs1331851285
rs1331851285
CASP1
2 1.000 0.080 11 105029220 missense variant T/C snv 1.4E-05 0.010 1.000 1 2014 2014
dbSNP: rs180177494
rs180177494
NLRP3
1 1.000 0.080 1 247424344 missense variant A/G snv 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs387907272
rs387907272
MYD88
73 0.572 0.520 3 38141150 stop lost T/C snv 5.2E-05 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs763186819
rs763186819
NLRP3
1 1.000 0.080 1 247425349 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2016 2016