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: rs1555789019
rs1555789019
5 0.882 0.320 18 55269829 splice donor variant ACCCAT/GGGAC delins 0.700 0