Source: BEFREE ×
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: rs151340626
rs151340626
CLCN5
3 0.827 0.200 X 50085987 missense variant C/T snv 0.710 1.000 1 1998 1998
dbSNP: rs1254229398
rs1254229398
CLCN5
1 1.000 0.120 X 50086428 missense variant G/A;T snv 0.010 1.000 1 2009 2009
dbSNP: rs151340628
rs151340628
CLCN5
1 0.925 0.120 X 50086362 missense variant G/A;C snv 1.1E-05 0.010 1.000 1 2009 2009