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: rs397517077
rs397517077
CBL
10 0.851 0.320 11 119278162 splice acceptor variant AAAG/- del 0.700 0