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: rs1553182933
rs1553182933
2 1.000 1 61404103 splice acceptor variant G/A snv 0.700 1.000 12 1999 2015