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: rs151340628
rs151340628
CLCN5
2 0.925 0.120 X 50086362 missense variant G/A;C snv 1.1E-05 0.800 1.000 3 1997 2009
dbSNP: rs151340620
rs151340620
CLCN5
2 0.925 0.120 X 50086360 stop gained G/A snv 0.700 0
dbSNP: rs151340627
rs151340627
CLCN5
3 0.882 0.160 X 50086551 stop gained G/A snv 0.700 0
dbSNP: rs1569540520
rs1569540520
CLCN5
1 1.000 0.120 X 50090819 frameshift variant C/- delins 0.700 0