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: rs1034395178
rs1034395178
33 0.716 0.480 22 20996071 stop gained C/A;T snv 4.0E-06; 8.0E-06 0.700 1.000 1 2018 2018
dbSNP: rs1057516031
rs1057516031
3 1.000 0.080 X 150598681 stop gained G/T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057516032
rs1057516032
4 1.000 19 41970211 protein altering variant AGTCT/GA delins 0.700 1.000 1 2016 2016
dbSNP: rs1057516033
rs1057516033
9 0.807 0.400 10 75025250 splice donor variant G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs1057516040
rs1057516040
7 0.851 0.200 13 101292052 missense variant T/C snv 0.700 1.000 1 2016 2016
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: rs1057519389
rs1057519389
46 0.695 0.400 10 129957324 missense variant C/A;G;T snv 0.700 1.000 1 2017 2017
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: rs1057519566
rs1057519566
7 0.851 0.160 7 76063579 missense variant C/T snv 0.700 1.000 1 2017 2017
dbSNP: rs1057519567
rs1057519567
5 0.882 0.040 7 76063554 frameshift variant G/- delins 0.700 1.000 1 2017 2017
dbSNP: rs1057519925
rs1057519925
25 0.683 0.560 3 179210291 missense variant G/A;C snv 0.700 0
dbSNP: rs1057524157
rs1057524157
19 0.776 0.200 11 686962 missense variant A/C;T snv 0.700 1.000 2 2017 2017
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