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: rs397515396
rs397515396
2 0.925 7 16216198 splice acceptor variant C/A;T snv 0.700 1.000 2 2012 2013