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: rs81002874
rs81002874
3 0.925 0.200 13 32363178 splice acceptor variant G/A;C;T snv 4.0E-06 0.700 1.000 20 2002 2017