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: rs587776701
rs587776701
2 0.925 0.080 5 80675096 frameshift variant A/-;AA delins 2.1E-05 0.700 0
dbSNP: rs751326348
rs751326348
1 1.000 5 80813687 frameshift variant C/- delins 2.0E-05 2.1E-05 0.700 0
dbSNP: rs866260675
rs866260675
1 1.000 5 80778719 splice acceptor variant G/A;C snv 0.700 0
dbSNP: rs886037878
rs886037878
1 1.000 5 80864811 splice acceptor variant A/C snv 0.700 0