Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs61752717
MEFV
0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 72
rs397514698
GNAQ
0.667 0.400 9 77797577 missense variant C/T snv 52
rs61816761
FLG ; FLG-AS1
0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06 43
rs63750687
PSEN1
0.752 0.200 14 73217137 missense variant C/A;G;T snv 33
rs17235409
SLC11A1
0.653 0.600 2 218395009 missense variant G/A;C snv 4.9E-02; 4.1E-06 31
rs1135401778
BPTF
0.752 0.400 17 67854315 frameshift variant T/- del 20
rs28940578
MEFV
0.716 0.400 16 3243405 missense variant C/T snv 1.4E-04 6.3E-05 16
rs2237051
EGF
0.925 0.120 4 109980042 missense variant G/A snv 0.46 0.53 3