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: rs1010184002
rs1010184002
60 0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06 0.700 0
dbSNP: rs1057518345
rs1057518345
25 0.742 0.400 20 50894172 frameshift variant ACTA/- delins 0.700 0
dbSNP: rs1057518786
rs1057518786
5 1.000 6 33441374 splice region variant G/A snv 0.700 0
dbSNP: rs1057518794
rs1057518794
ARX
1 X 25004777 frameshift variant TCTG/- delins 0.700 0
dbSNP: rs1057518845
rs1057518845
5 0.925 0.120 12 23755726 splice acceptor variant T/G snv 0.700 0
dbSNP: rs1057518879
rs1057518879
19 0.776 0.280 1 11965571 stop gained G/A snv 0.700 0
dbSNP: rs1057518928
rs1057518928
3 1.000 0.040 12 23665471 missense variant G/A snv 0.700 0
dbSNP: rs1057519429
rs1057519429
15 0.807 0.240 19 13235666 missense variant C/G;T snv 0.700 0
dbSNP: rs1057519437
rs1057519437
6 0.851 0.240 10 129957300 missense variant C/T snv 0.700 0
dbSNP: rs1057519443
rs1057519443
7 0.882 0.200 2 201675255 missense variant A/G snv 0.700 0
dbSNP: rs1057519444
rs1057519444
5 0.925 0.120 22 32518208 missense variant GG/AA mnv 0.700 0
dbSNP: rs1057519450
rs1057519450
1 14 73537826 frameshift variant AGCCGGTGCGCGCG/- delins 0.700 0
dbSNP: rs1057519521
rs1057519521
8 0.851 0.120 10 129963375 frameshift variant TCTC/- del 0.700 0
dbSNP: rs1057519925
rs1057519925
25 0.683 0.560 3 179210291 missense variant G/A;C snv 0.700 0
dbSNP: rs1060505041
rs1060505041
34 0.716 0.400 19 13136099 missense variant C/A;T snv 0.700 0
dbSNP: rs1064795559
rs1064795559
29 0.752 0.320 22 30946373 missense variant G/A snv 0.700 0
dbSNP: rs1085307451
rs1085307451
4 0.925 0.160 3 47848246 missense variant C/T snv 0.700 0
dbSNP: rs1085307845
rs1085307845
21 0.752 0.320 6 79025582 missense variant G/T snv 0.700 0
dbSNP: rs1131691771
rs1131691771
18 0.807 0.160 6 78958469 splice donor variant ACTT/- delins 0.700 0
dbSNP: rs1131692228
rs1131692228
5 0.925 0.160 7 100646637 missense variant C/T snv 0.700 0
dbSNP: rs1131692229
rs1131692229
11 0.851 0.120 2 8730956 frameshift variant GT/- delins 0.700 0
dbSNP: rs1131692272
rs1131692272
9 0.851 0.240 2 100006808 missense variant C/T snv 0.700 0
dbSNP: rs1135401746
rs1135401746
7 0.827 0.400 1 1806512 missense variant C/G snv 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: rs121434341
rs121434341
10 0.807 0.360 8 60855993 missense variant C/A;T snv 0.700 0