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: rs151340626
rs151340626
CLCN5
5 0.827 0.200 X 50085987 missense variant C/T snv 0.710 1.000 1 1998 1998
dbSNP: rs797044815
rs797044815
CLCN5
1 1.000 0.120 X 50092157 frameshift variant TGTTAAAGCATATAGCACAGATG/- delins 0.700 1.000 1 2000 2000
dbSNP: rs151340630
rs151340630
CLCN5
2 0.925 0.120 X 50086035 missense variant G/T snv 0.700 0
dbSNP: rs273585644
rs273585644
CLCN5
1 1.000 0.120 X 50086338 missense variant A/G snv 0.700 0
dbSNP: rs273585645
rs273585645
CLCN5
1 1.000 0.120 X 50081798 missense variant T/C snv 0.700 0
dbSNP: rs273585646
rs273585646
CLCN5
1 1.000 0.120 X 50086543 missense variant C/A snv 0.700 0
dbSNP: rs273585647
rs273585647
CLCN5
1 1.000 0.120 X 50090118 missense variant G/A snv 0.700 0
dbSNP: rs273585648
rs273585648
CLCN5
1 1.000 0.120 X 50086357 missense variant G/C snv 0.700 0
dbSNP: rs273585649
rs273585649
CLCN5
1 1.000 0.120 X 50090218 missense variant A/G snv 0.700 0
dbSNP: rs273585650
rs273585650
CLCN5
2 0.925 0.120 X 50090220 missense variant T/G snv 0.700 0
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
2 0.925 0.120 X 50086362 missense variant G/A;C snv 1.1E-05 0.010 1.000 1 2009 2009