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: rs777685454
rs777685454
CLCN1
1 1.000 0.120 7 143341952 missense variant G/A;C snv 2.4E-05; 4.0E-06 0.700 1.000 20 1992 2016