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: rs1057516064
rs1057516064
ATP6 ; COX3 ; ND3 ; ND4 ; ND4L
3 0.925 0.120 MT 9237 missense variant G/A snv 0.700 1.000 1 2017 2017
dbSNP: rs28934904
rs28934904
MECP2
9 0.776 0.200 X 154031431 missense variant G/A;C;T snv 0.030 1.000 3 2006 2015
dbSNP: rs28934906
rs28934906
MECP2
46 0.716 0.320 X 154031355 missense variant G/A snv 0.020 1.000 2 2010 2015
dbSNP: rs61749721
rs61749721
MECP2
17 0.732 0.200 X 154031065 stop gained G/A snv 0.020 1.000 2 2010 2015
dbSNP: rs121434610
rs121434610
SMS
3 0.882 0.120 X 21967312 missense variant G/A snv 0.010 1.000 1 2008 2008
dbSNP: rs121918363
rs121918363
SRPX2
2 0.925 0.200 X 100667292 missense variant A/G snv 5.7E-04 4.1E-04 0.010 1.000 1 2019 2019
dbSNP: rs122460159
rs122460159
CDKL5
6 0.807 0.200 X 18564496 missense variant C/T snv 0.010 1.000 1 2015 2015
dbSNP: rs1278838206
rs1278838206
PCDH19
3 0.925 0.200 X 100296654 missense variant C/T snv 1.1E-05 0.010 1.000 1 2016 2016
dbSNP: rs1443492116
rs1443492116
SLC35A2
1 1.000 0.040 X 48911564 missense variant G/T snv 1.1E-04 0.010 1.000 1 2011 2011
dbSNP: rs199590018
rs199590018
SYP
3 0.925 0.120 X 49193294 missense variant G/A snv 1.4E-04 7.5E-05 0.010 1.000 1 2017 2017
dbSNP: rs200533370
rs200533370
SYN1
3 0.882 0.160 X 47574285 missense variant T/C snv 1.1E-03 1.4E-02 0.010 1.000 1 2011 2011
dbSNP: rs267608665
rs267608665
RS1 ; CDKL5
1 1.000 0.040 X 18650520 stop gained C/A;T snv 5.5E-06; 1.1E-05 0.010 1.000 1 2010 2010
dbSNP: rs28934907
rs28934907
MECP2
30 0.732 0.320 X 154032268 missense variant G/A;C snv 0.010 1.000 1 2010 2010
dbSNP: rs28935468
rs28935468
MECP2
17 0.732 0.240 X 154030912 missense variant G/A snv 0.010 1.000 1 2010 2010
dbSNP: rs61749712
rs61749712
MECP2
1 1.000 0.040 X 154031243 missense variant G/A;T snv 1.7E-04 0.010 1.000 1 2015 2015
dbSNP: rs61750240
rs61750240
MECP2
19 0.752 0.240 X 154031020 stop gained G/A;C snv 5.5E-06 0.010 1.000 1 2011 2011
dbSNP: rs61751364
rs61751364
MECP2
4 0.882 0.120 X 154030944 frameshift variant CGGAT/- delins 0.010 1.000 1 2010 2010
dbSNP: rs868973240
rs868973240
MECP2
1 1.000 0.040 X 154032314 synonymous variant G/A snv 0.010 1.000 1 2015 2015
dbSNP: rs4680
rs4680
COMT ; MIR4761
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.020 1.000 2 2013 2019
dbSNP: rs42938
rs42938
GAL3ST1
1 1.000 0.040 22 30569770 intron variant T/C snv 0.41 0.010 1.000 1 2019 2019
dbSNP: rs587777459
rs587777459
DEPDC5
3 0.882 0.040 22 31815005 stop gained C/G;T snv 2.0E-05 0.010 1.000 1 2018 2018
dbSNP: rs886039278
rs886039278
DEPDC5
1 1.000 0.040 22 31815000 missense variant G/A snv 4.0E-06 1.4E-05 0.010 1.000 1 2018 2018
dbSNP: rs12483428
rs12483428
MIR155HG
1 1.000 0.040 21 25561470 upstream gene variant T/C;G snv 0.010 1.000 1 2015 2015
dbSNP: rs4817027
rs4817027
MIR155HG
2 0.925 0.040 21 25566677 intron variant G/A snv 0.59 0.010 1.000 1 2015 2015
dbSNP: rs969885
rs969885 		2 0.925 0.040 21 25558821 upstream gene variant C/T snv 8.2E-02 0.010 1.000 1 2015 2015