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: rs587781270
rs587781270
5 0.882 0.080 1 17033058 splice donor variant A/T snv 0.700 1.000 4 2006 2012