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: rs1304422857
rs1304422857
3 1.000 12 109511304 splice donor variant G/A;T snv 0.700 1.000 8 2003 2018