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: rs118203998
rs118203998
11 0.790 0.400 16 23603471 stop gained G/C;T snv 1.6E-05; 4.0E-06 0.700 0
dbSNP: rs180177092
rs180177092
5 0.851 0.280 16 23635788 frameshift variant AG/- delins 0.700 0
dbSNP: rs180177097
rs180177097
5 0.882 0.080 16 23635519 stop gained G/A snv 0.700 0
dbSNP: rs180177100
rs180177100
6 0.827 0.400 16 23635306 stop gained G/A snv 8.0E-06 1.4E-05 0.700 0
dbSNP: rs180177133
rs180177133
9 0.807 0.240 16 23614089 frameshift variant T/- delins 1.2E-05 1.4E-05 0.700 0
dbSNP: rs180177138
rs180177138
2 0.925 0.080 16 23603523 frameshift variant C/- delins 0.700 0
dbSNP: rs180177142
rs180177142
3 0.925 0.080 16 23638106 frameshift variant C/- del 0.700 0
dbSNP: rs180177143
rs180177143
4 0.882 0.080 16 23637886 frameshift variant ACAA/- delins 4.0E-05 3.5E-05 0.700 0
dbSNP: rs515726065
rs515726065
2 0.925 0.080 16 23635232 frameshift variant T/- delins 0.700 0
dbSNP: rs515726123
rs515726123
4 0.882 0.080 16 23636036 frameshift variant CT/- delins 1.4E-05 0.700 0
dbSNP: rs587776417
rs587776417
3 0.925 0.080 16 23629276 splice acceptor variant C/A;G;T snv 4.0E-06 0.700 0
dbSNP: rs587776419
rs587776419
4 0.882 0.200 16 23624008 splice donor variant C/A;G;T snv 0.700 0
dbSNP: rs587776527
rs587776527
3 0.925 0.080 16 23607958 stop gained G/A;C snv 2.0E-05 0.700 0
dbSNP: rs757369748
rs757369748
4 0.882 0.200 16 23638072 stop gained G/A;T snv 4.0E-06 0.700 0