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: rs1418997146
rs1418997146
CLN3
1 1.000 0.120 16 28482200 splice acceptor variant T/G snv 0.700 0