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: rs1060502787
rs1060502787
2 0.925 0.160 16 23626399 splice acceptor variant T/C;G snv 0.700 0
dbSNP: rs1567220542
rs1567220542
1 1.000 0.120 16 23634887 inframe deletion CTGATATTTGTG/- delins 0.700 0
dbSNP: rs1567224146
rs1567224146
1 1.000 0.120 16 23638070 splice region variant C/T snv 0.700 0
dbSNP: rs180177092
rs180177092
5 0.851 0.280 16 23635788 frameshift variant AG/- delins 0.700 0
dbSNP: rs515726060
rs515726060
3 0.925 0.160 16 23635493 frameshift variant TTTG/- delins 7.0E-06 0.700 0
dbSNP: rs515726117
rs515726117
3 0.925 0.160 16 23603658 frameshift variant C/- delins 4.0E-06 0.700 0
dbSNP: rs876658170
rs876658170
2 1.000 0.120 16 23629857 frameshift variant AG/- delins 0.700 0
dbSNP: rs876659463
rs876659463
2 1.000 0.120 16 23621357 splice region variant C/G snv 7.0E-06 0.700 0