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: rs397515539
rs397515539
CLCN7
4 0.851 0.040 16 1459139 missense variant C/T snv 0.030 1.000 3 2004 2010