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: rs386833976
rs386833976
CLN5 ; FBXL3
1 1.000 0.120 13 76996008 missense variant T/C snv 4.0E-06 0.800 1.000 10 1998 2015