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: rs1057518780
rs1057518780
GJB1
8 0.882 0.200 X 71224209 missense variant T/G snv 0.700 0
dbSNP: rs1553551006
rs1553551006
DYSF
4 1.000 2 71564172 frameshift variant T/- del 0.700 0