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: rs61752717
rs61752717
MEFV
72 0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 0.060 1.000 6 1999 2013
dbSNP: rs121913549
rs121913549
LYZ
3 0.882 0.200 12 69350194 missense variant T/A snv 0.010 1.000 1 2003 2003
dbSNP: rs1800973
rs1800973
LYZ
9 0.827 0.320 12 69350234 missense variant C/A snv 4.2E-02 4.3E-02 0.010 < 0.001 1 2003 2003
dbSNP: rs28940579
rs28940579
MEFV
13 0.732 0.440 16 3243310 missense variant A/G;T snv 2.2E-03; 4.0E-06 0.010 1.000 1 2002 2002
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 2002 2002
dbSNP: rs387906536
rs387906536
LYZ
6 0.851 0.200 12 69350215 missense variant T/A;C snv 0.010 1.000 1 2019 2019
dbSNP: rs765705498
rs765705498
GSN
1 1.000 0.160 9 121314014 missense variant G/A;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2014 2014