Source: ALL
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: rs1057516031
rs1057516031
MTM1
3 1.000 0.080 X 150598681 stop gained G/T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057518794
rs1057518794
ARX
1 X 25004777 frameshift variant TCTG/- delins 0.700 0
dbSNP: rs1555955296
rs1555955296
CDKL5
17 0.742 0.320 X 18628716 stop gained C/T snv 0.700 0
dbSNP: rs1557106484
rs1557106484
ATRX
7 X 77633315 missense variant C/A snv 0.700 0
dbSNP: rs1569190079
rs1569190079
PDHA1
10 0.882 0.160 X 19350044 missense variant G/T snv 0.700 0
dbSNP: rs1569301036
rs1569301036
TAF1
17 0.827 0.240 X 71397354 missense variant C/T snv 0.700 0
dbSNP: rs1569525894
rs1569525894
SLC9A6
14 0.790 0.280 X 136040055 frameshift variant TCTTCCTTAACCACCGC/- delins 0.700 0
dbSNP: rs267608327
rs267608327
MECP2
25 0.763 0.200 X 154030631 splice acceptor variant CCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGT/- delins 0.700 0
dbSNP: rs28934907
rs28934907
MECP2
30 0.732 0.320 X 154032268 missense variant G/A;C snv 0.700 0
dbSNP: rs587783405
rs587783405
CDKL5
9 0.851 0.160 X 18588021 stop gained C/T snv 0.700 0
dbSNP: rs587783772
rs587783772
MTM1
14 0.776 0.200 X 150659665 missense variant G/A;T snv 0.700 0
dbSNP: rs61748421
rs61748421
MECP2
9 0.807 0.200 X 154031326 stop gained G/A;T snv 0.700 0
dbSNP: rs72554640
rs72554640
ATP7A ; PGK1
9 0.882 0.160 X 78011239 stop gained C/T snv 0.700 0
dbSNP: rs1034395178
rs1034395178
LZTR1
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: rs372949028
rs372949028
TANGO2
13 0.827 0.240 22 20061684 splice donor variant G/A;C snv 7.1E-05 5.6E-05 0.700 1.000 1 2016 2016
dbSNP: rs1057519444
rs1057519444
SYN3
5 0.925 0.120 22 32518208 missense variant GG/AA mnv 0.700 0
dbSNP: rs1064795559
rs1064795559
MORC2
29 0.752 0.320 22 30946373 missense variant G/A snv 0.700 0
dbSNP: rs1569146993
rs1569146993
TCF20
5 0.851 0.320 22 42211700 frameshift variant -/C delins 0.700 0
dbSNP: rs587784347
rs587784347
PLA2G6
38 0.742 0.280 22 38113561 missense variant G/A snv 8.0E-06 0.700 0
dbSNP: rs147484110
rs147484110
CSTB
11 0.807 0.200 21 43774760 splice acceptor variant C/G snv 1.5E-04 2.7E-04 0.700 0
dbSNP: rs1556425596
rs1556425596
COL6A1
37 0.752 0.240 21 45989967 intron variant C/T snv 0.700 0
dbSNP: rs137854544
rs137854544
CTSA
10 0.827 0.320 20 45894040 missense variant T/A snv 3.6E-05 4.9E-05 0.700 1.000 3 1996 2014
dbSNP: rs875989777
rs875989777
CTSA
9 0.851 0.320 20 45894704 frameshift variant AT/- delins 0.700 1.000 3 1996 2014
dbSNP: rs1057518345
rs1057518345
ADNP
25 0.742 0.400 20 50894172 frameshift variant ACTA/- delins 0.700 0
dbSNP: rs1555889127
rs1555889127
KCNB1 ; LOC105372649
6 1.000 0.040 20 49374625 missense variant C/T snv 0.700 0