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: rs386834133
rs386834133
CLN8
1 1.000 0.120 8 1780287 missense variant A/G snv 0.800 1.000 7 2004 2016