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: rs1187636039
rs1187636039
EPHA3
5 0.925 0.120 3 89341043 missense variant C/A snv 0.010 1.000 1 2011 2011
dbSNP: rs121908146
rs121908146
NLRP3
4 0.851 0.120 1 247424765 missense variant C/T snv 0.010 1.000 1 2016 2016
dbSNP: rs121908150
rs121908150
NLRP3
5 0.851 0.080 1 247424227 stop gained C/T snv 0.010 1.000 1 2002 2002
dbSNP: rs147080557
rs147080557
NLRP12
6 0.882 0.120 19 53810777 missense variant G/A;C snv 3.6E-05; 4.0E-06 0.010 1.000 1 2011 2011
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