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: rs398122400
rs398122400
1 1.000 0.080 18 31343965 frameshift variant G/- del 0.700 0
dbSNP: rs398122952
rs398122952
1 1.000 0.080 18 31326580 splice acceptor variant G/A snv 0.700 0