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: rs1553927080
rs1553927080
1 1.000 0.120 4 88058104 splice donor variant G/A snv 0.700 1.000 2 2007 2012