Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs137852973
BSCL2 ; HNRNPUL2-BSCL2
0.752 0.200 11 62702493 missense variant G/A;C snv 7.0E-06 13
rs121908457
LOC101928005 ; MYOT
0.882 0.120 5 137870815 missense variant C/T snv 13
rs1553551006
DYSF
1.000 2 71564172 frameshift variant T/- del 4
rs1057518895
RAB33A ; AIFM1
1.000 0.120 X 130137134 start lost A/G snv 4