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: rs1057518895
rs1057518895
AIFM1 ; RAB33A
4 1.000 0.120 X 130137134 start lost A/G snv 0.700 0
dbSNP: rs121908457
rs121908457
MYOT ; LOC101928005
13 0.882 0.120 5 137870815 missense variant C/T snv 0.700 0
dbSNP: rs137852973
rs137852973
BSCL2 ; HNRNPUL2-BSCL2
13 0.752 0.200 11 62702493 missense variant G/A;C snv 7.0E-06 0.700 0
dbSNP: rs1553551006
rs1553551006
DYSF
4 1.000 2 71564172 frameshift variant T/- del 0.700 0