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: rs1554451484
rs1554451484
CLN8
1 1.000 0.120 8 1780248 splice acceptor variant A/G snv 0.700 0