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: rs2770144
rs2770144
TLR4
1 1.000 0.120 9 117713057 missense variant T/G snv 0.010 1.000 1 2019 2019
dbSNP: rs373821605
rs373821605
CXCL8
1 1.000 0.120 4 73741652 missense variant C/T snv 2.1E-05 0.010 1.000 1 2015 2015
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: rs770199823
rs770199823
GORASP1
1 1.000 0.120 3 39100811 missense variant A/C;G snv 2.0E-05; 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs772829518
rs772829518
CD40
2 0.925 0.200 20 46122699 missense variant T/C snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs774347347
rs774347347
ARHGEF7
2 0.925 0.200 13 111244264 missense variant T/C snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs779189628
rs779189628
CASP8
2 0.925 0.120 2 201284885 missense variant A/G snv 4.0E-06 0.010 < 0.001 1 2006 2006
dbSNP: rs779944761
rs779944761
RELA ; RELA-DT
1 1.000 0.120 11 65661817 missense variant G/A snv 4.0E-06 7.0E-06 0.010 1.000 1 2015 2015