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: rs121912801
rs121912801
CLCN1
2 0.925 0.120 7 143339527 missense variant G/T snv 1.6E-05 1.4E-05 0.800 1.000 23 1992 2016