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: rs876661024
rs876661024
11 0.776 0.200 10 87957852 splice acceptor variant G/A;C;T snv 0.700 0