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: rs1135402759
rs1135402759
4 1.000 0.280 2 144389932 missense variant T/C snv 0.700 0
dbSNP: rs542652468
rs542652468
6 0.882 19 41986177 missense variant G/A;T snv 0.700 0
dbSNP: rs121913375
rs121913375
7 0.851 0.240 7 140753339 missense variant G/A;C snv 0.700 0
dbSNP: rs1567368243
rs1567368243
9 0.882 0.040 15 75411651 frameshift variant -/T delins 0.700 1.000 1 2019 2019
dbSNP: rs397516827
rs397516827
9 0.882 0.160 3 12604194 missense variant G/A;C;T snv 0.700 0
dbSNP: rs1559662068
rs1559662068
10 0.925 3 9741340 frameshift variant AG/T delins 0.700 0
dbSNP: rs1131692229
rs1131692229
11 0.851 0.120 2 8730956 frameshift variant GT/- delins 0.700 0
dbSNP: rs794727774
rs794727774
11 0.827 0.240 1 23848684 stop gained C/T snv 0.700 0
dbSNP: rs190521996
rs190521996
12 0.790 0.320 16 8811660 missense variant T/C snv 2.9E-04 4.1E-04 0.700 0
dbSNP: rs199473457
rs199473457
12 0.827 0.200 11 2572020 missense variant C/A;T snv 0.700 0
dbSNP: rs376754460
rs376754460
12 0.807 0.280 16 8801859 missense variant G/A;C;T snv 8.0E-06 0.700 0
dbSNP: rs1164484724
rs1164484724
13 0.790 0.240 9 137108433 stop gained C/T snv 7.0E-06 0.700 0
dbSNP: rs864309488
rs864309488
14 0.776 0.440 6 24777296 missense variant A/G snv 0.700 1.000 1 2015 2015
dbSNP: rs1131692034
rs1131692034
EDA
14 0.790 0.160 X 69616488 stop gained C/A snv 0.700 0
dbSNP: rs80338701
rs80338701
14 0.776 0.360 16 8811088 stop gained C/A;T snv 4.4E-05; 5.4E-06 0.700 0
dbSNP: rs1057518879
rs1057518879
19 0.776 0.280 1 11965571 stop gained G/A snv 0.700 0
dbSNP: rs886043994
rs886043994
21 0.776 0.400 20 32433355 frameshift variant GT/- delins 0.700 0
dbSNP: rs28936415
rs28936415
22 0.752 0.320 16 8811153 missense variant G/A snv 4.1E-03 3.7E-03 0.700 0
dbSNP: rs398124401
rs398124401
26 0.695 0.480 4 55346393 stop gained G/A snv 1.2E-04 2.8E-05 0.700 0
dbSNP: rs121918460
rs121918460
27 0.708 0.400 12 112450364 missense variant T/A;G snv 4.0E-06 0.700 0
dbSNP: rs397517148
rs397517148
27 0.776 0.200 2 39023128 missense variant C/T snv 0.700 0
dbSNP: rs312262690
rs312262690
28 0.752 0.320 4 79984831 frameshift variant -/G;GG delins 1.7E-05 0.700 0
dbSNP: rs137852981
rs137852981
30 0.752 0.480 2 144399104 stop gained G/A snv 0.700 0
dbSNP: rs121918455
rs121918455
31 0.695 0.440 12 112477720 missense variant A/C;G snv 0.700 0
dbSNP: rs66527965
rs66527965
31 0.763 0.240 17 50193038 missense variant C/A;T snv 0.700 0