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: rs81002836
rs81002836
5 0.851 0.200 13 32362521 splice acceptor variant A/G;T snv 0.700 1.000 17 1999 2016