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: rs1064795104
rs1064795104
17 0.790 0.440 2 72498492 stop gained A/C snv 0.700 1.000 2 2013 2014
dbSNP: rs1135402760
rs1135402760
6 0.851 0.160 11 1451405 frameshift variant AG/- delins 0.700 1.000 1 2019 2019
dbSNP: rs1554297905
rs1554297905
6 0.882 0.160 7 39686740 missense variant G/A snv 0.700 1.000 1 2018 2018
dbSNP: rs267607116
rs267607116
8 0.851 0.160 8 93808861 missense variant G/A;C snv 0.700 1.000 1 2009 2009
dbSNP: rs369634007
rs369634007
10 0.882 0.080 2 112098688 missense variant A/G snv 1.6E-05 2.1E-05 0.700 1.000 1 2016 2016
dbSNP: rs531630376
rs531630376
4 1.000 0.080 5 141955844 stop gained C/A snv 4.0E-06 0.700 1.000 1 2019 2019
dbSNP: rs869312741
rs869312741
5 0.882 0.080 19 43747509 frameshift variant GG/- delins 0.700 1.000 1 2016 2016
dbSNP: rs869312742
rs869312742
5 0.882 0.080 19 43744768 splice region variant T/C snv 0.700 1.000 1 2016 2016
dbSNP: rs1010184002
rs1010184002
60 0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06 0.700 0
dbSNP: rs1014959895
rs1014959895
16 0.763 0.360 16 68329105 stop gained G/C;T snv 4.0E-06; 1.6E-05 0.700 0
dbSNP: rs1057518849
rs1057518849
4 0.925 0.080 9 137800985 splice donor variant G/A;C snv 4.0E-06 0.700 0
dbSNP: rs1057518921
rs1057518921
7 1.000 X 71132465 missense variant G/A snv 0.700 0
dbSNP: rs1057519521
rs1057519521
8 0.851 0.120 10 129963375 frameshift variant TCTC/- del 0.700 0
dbSNP: rs1131692272
rs1131692272
9 0.851 0.240 2 100006808 missense variant C/T snv 0.700 0
dbSNP: rs1135402758
rs1135402758
5 1.000 9 131199023 intron variant T/- delins 0.700 0
dbSNP: rs1135402761
rs1135402761
11 0.827 0.320 12 79448958 missense variant T/C snv 0.700 0
dbSNP: rs113871094
rs113871094
34 0.683 0.320 15 48465820 stop gained G/A snv 0.700 0
dbSNP: rs1163944538
rs1163944538
73 0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06 0.700 0
dbSNP: rs1189909394
rs1189909394
5 11 64298178 missense variant G/A;C snv 7.0E-06 0.700 0
dbSNP: rs121434616
rs121434616
6 0.925 0.080 X 120544179 stop gained G/A snv 0.700 0
dbSNP: rs1223073957
rs1223073957
12 0.827 0.240 19 49835897 frameshift variant C/- delins 1.2E-05 1.4E-05 0.700 0
dbSNP: rs1251713297
rs1251713297
15 0.776 0.360 16 68355785 stop gained C/A snv 8.1E-06 0.700 0
dbSNP: rs1352010373
rs1352010373
73 0.641 0.560 17 75489265 splice acceptor variant G/C snv 0.700 0
dbSNP: rs138632121
rs138632121
13 0.776 0.400 16 3026140 missense variant T/A snv 1.7E-04 2.0E-04 0.700 0
dbSNP: rs142110773
rs142110773
13 0.882 0.160 7 50463317 missense variant G/A snv 1.6E-05 7.0E-06 0.700 0