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: rs1567206804
rs1567206804
1 1.000 0.080 16 23607911 frameshift variant AG/- delins 0.700 1.000 8 2006 2015
dbSNP: rs773829275
rs773829275
1 1.000 0.080 16 23603526 stop gained G/A;T snv 4.0E-06 7.0E-06 0.700 1.000 6 2007 2015
dbSNP: rs1555457841
rs1555457841
1 1.000 0.080 16 23603497 stop gained G/A snv 0.700 1.000 5 2007 2016
dbSNP: rs1567204928
rs1567204928
1 1.000 0.080 16 23603476 frameshift variant -/AA delins 0.700 1.000 5 2007 2015
dbSNP: rs1567204932
rs1567204932
1 1.000 0.080 16 23603477 frameshift variant AATA/- delins 0.700 1.000 5 2007 2015
dbSNP: rs515726111
rs515726111
1 1.000 0.080 16 23608013 splice acceptor variant C/G;T snv 0.700 1.000 3 2007 2014
dbSNP: rs1555460533
rs1555460533
1 1.000 0.080 16 23630170 stop gained T/A snv 0.700 1.000 2 2015 2017
dbSNP: rs755263466
rs755263466
1 1.000 0.080 16 23630142 stop gained A/C snv 8.0E-06 0.700 1.000 2 2016 2018
dbSNP: rs1057517602
rs1057517602
1 1.000 0.080 16 23630316 frameshift variant T/- del 0.700 1.000 1 2016 2016
dbSNP: rs1304351755
rs1304351755
1 1.000 0.080 16 23626334 stop gained C/A;G;T snv 7.0E-06 0.700 1.000 1 2014 2014
dbSNP: rs875989791
rs875989791
1 1.000 0.080 16 23635853 frameshift variant T/-;TT delins 0.700 1.000 1 2017 2017
dbSNP: rs1057517563
rs1057517563
1 1.000 0.080 16 23603595 frameshift variant A/- delins 0.700 0
dbSNP: rs1060502738
rs1060502738
1 1.000 0.080 16 23635994 frameshift variant G/- del 0.700 0
dbSNP: rs1060502748
rs1060502748
1 1.000 0.080 16 23629779 stop gained G/C snv 0.700 0
dbSNP: rs1060502761
rs1060502761
1 1.000 0.080 16 23635111 stop gained G/A;T snv 0.700 0
dbSNP: rs1060502764
rs1060502764
1 1.000 0.080 16 23603671 splice acceptor variant T/C snv 0.700 0
dbSNP: rs1060502771
rs1060502771
1 1.000 0.080 16 23630098 frameshift variant T/- delins 0.700 0
dbSNP: rs1060502772
rs1060502772
1 1.000 0.080 16 23635613 frameshift variant -/G ins 0.700 0
dbSNP: rs1060502781
rs1060502781
1 1.000 0.080 16 23623029 frameshift variant C/- del 0.700 0
dbSNP: rs1060502785
rs1060502785
1 1.000 0.080 16 23635180 stop gained C/A snv 0.700 0
dbSNP: rs1060502788
rs1060502788
1 1.000 0.080 16 23635498 stop gained G/A snv 0.700 0
dbSNP: rs1060502803
rs1060502803
1 1.000 0.080 16 23630412 frameshift variant A/- delins 0.700 0
dbSNP: rs1064795953
rs1064795953
1 1.000 0.080 16 23635998 frameshift variant C/- del 0.700 0
dbSNP: rs1218512317
rs1218512317
1 1.000 0.080 16 23607890 stop gained G/C;T snv 4.0E-06 0.700 0
dbSNP: rs139555085
rs139555085
1 1.000 0.080 16 23636146 missense variant C/T snv 3.0E-04 1.6E-03 0.700 0