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: rs397515937
rs397515937
4 0.851 0.080 11 47339792 splice acceptor variant T/C snv 0.700 1.000 11 1995 2014