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: rs1555743003
rs1555743003
58 0.701 0.520 18 33740444 splice donor variant G/A snv 0.700 1.000 1 2016 2016