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: rs879254139
rs879254139
3 0.925 0.200 2 214797118 splice acceptor variant C/A;T snv 0.700 1.000 2 2010 2012