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: rs151344629
rs151344629
NLRP3
4 0.851 0.200 1 247424492 missense variant C/T snv 0.820 1.000 7 2001 2016
dbSNP: rs121908150
rs121908150
NLRP3
5 0.851 0.080 1 247424227 stop gained C/T snv 0.820 1.000 5 2001 2014
dbSNP: rs121908153
rs121908153
NLRP3
4 0.882 0.080 1 247424356 missense variant G/A;C snv 0.810 1.000 6 2001 2016
dbSNP: rs121908149
rs121908149
NLRP3
1 1.000 0.080 1 247424504 missense variant C/T snv 0.800 1.000 5 2001 2014
dbSNP: rs121908151
rs121908151
NLRP3
1 1.000 0.080 1 247425154 missense variant G/A;C snv 0.800 1.000 5 2001 2014
dbSNP: rs121908147
rs121908147
NLRP3
7 0.807 0.280 1 247424041 missense variant G/A;C snv 8.3E-03; 4.0E-06 0.720 1.000 6 2001 2014
dbSNP: rs180177430
rs180177430
NLRP3
1 1.000 0.080 1 247424764 missense variant G/A;C snv 0.700 0
dbSNP: rs180177431
rs180177431
NLRP3
2 0.925 0.080 1 247424363 missense variant T/C snv 0.700 0
dbSNP: rs28937896
rs28937896
NLRP3
6 0.807 0.120 1 247424507 missense variant T/C snv 0.700 0
dbSNP: rs180177470
rs180177470
NLRP3
1 1.000 0.080 1 247424380 missense variant G/A snv 0.020 1.000 2 2011 2016
dbSNP: rs180177456
rs180177456
NLRP3
2 0.925 0.160 1 247424426 missense variant G/A snv 0.010 < 0.001 1 2019 2019
dbSNP: rs180177488
rs180177488
NLRP3
1 1.000 0.080 1 247424384 missense variant A/C snv 0.010 1.000 1 2007 2007
dbSNP: rs3743930
rs3743930
MEFV
43 0.611 0.720 16 3254626 missense variant C/G;T snv 7.1E-02 0.010 1.000 1 2004 2004
dbSNP: rs778653907
rs778653907
TNFRSF1A
1 1.000 0.080 12 6329817 missense variant T/C snv 1.1E-04 7.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs786204815
rs786204815
ZEB2
3 0.882 0.360 2 144400160 stop gained G/A snv 0.010 1.000 1 2019 2019
dbSNP: rs868412274
rs868412274
IL18R1
1 1.000 0.080 2 102396656 missense variant G/A snv 0.010 1.000 1 2011 2011