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: rs1131692058
rs1131692058
1 1.000 0.080 7 140734769 splice acceptor variant TCTACA/- delins 0.700 0