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: rs397516438
rs397516438
2 1.000 0.120 17 7676398 splice acceptor variant GGAA/ACGTTCTT delins 0.700 1.000 2 1996 1997