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: rs1561824498
rs1561824498
1 1.000 0.040 5 88752044 splice acceptor variant C/A snv 0.700 1.000 1 2019 2019
dbSNP: rs796052733
rs796052733
1 1.000 0.040 5 88731773 stop gained G/A snv 0.700 1.000 1 2019 2019