Gene: CLCN1 ×
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: rs1554438441
rs1554438441
CLCN1
5 0.882 0.040 7 143342006 frameshift variant -/TC delins 0.700 0