Source: BEFREE ×
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: rs63390262
rs63390262
MECP2
1 1.000 0.080 X 154030668 missense variant G/A snv 2.3E-05; 7.5E-05 0.010 1.000 1 2016 2016
dbSNP: rs750171549
rs750171549
RIMS2
1 1.000 0.080 8 103885392 missense variant G/A snv 8.1E-06 1.4E-05 0.010 1.000 1 2013 2013
dbSNP: rs762952014
rs762952014
SYN1
1 1.000 0.080 X 47576535 missense variant G/A snv 5.4E-06 0.010 1.000 1 2016 2016
dbSNP: rs766475539
rs766475539
CDKL5
2 1.000 0.080 X 18588118 missense variant G/C snv 0.010 1.000 1 2017 2017
dbSNP: rs768570497
rs768570497
MEF2C ; MEF2C-AS2
2 1.000 0.080 5 88722779 missense variant G/A snv 0.010 1.000 1 2017 2017
dbSNP: rs769085306
rs769085306
CHAT
1 1.000 0.080 10 49646558 missense variant T/C snv 0.010 1.000 1 2016 2016
dbSNP: rs782460882
rs782460882
MECP2
1 1.000 0.080 X 154030704 missense variant G/A snv 5.7E-06 0.010 1.000 1 2016 2016
dbSNP: rs786205045
rs786205045
MECP2
1 1.000 0.080 X 154097618 synonymous variant G/A snv 0.710 1.000 1 2013 2013
dbSNP: rs61751364
rs61751364
MECP2
4 0.882 0.120 X 154030944 frameshift variant CGGAT/- delins 0.770 1.000 7 2005 2016
dbSNP: rs138747073
rs138747073
FOXG1
1 0.925 0.120 14 28768479 stop gained C/A;G;T snv 6.0E-05 0.010 1.000 1 2010 2010
dbSNP: rs1397094538
rs1397094538
ZNF436 ; ZNF436-AS1
3 0.925 0.120 1 23367044 missense variant A/T snv 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs267606827
rs267606827
FOXG1
2 0.925 0.120 14 28768203 stop gained G/A snv 0.010 1.000 1 2010 2010
dbSNP: rs267608475
rs267608475
MECP2
2 0.925 0.120 X 154031415 stop gained A/G;T snv 0.710 1.000 1 1999 1999
dbSNP: rs61748404
rs61748404
MECP2
2 0.882 0.120 X 154031373 missense variant G/C;T snv 0.810 1.000 1 1999 2017
dbSNP: rs61748411
rs61748411
MECP2
3 0.925 0.120 X 154031356 missense variant T/C snv 0.710 1.000 1 1999 2017
dbSNP: rs79667838
rs79667838
GRPR
3 0.882 0.120 X 16150432 missense variant C/T snv 3.0E-04 4.8E-04 0.010 1.000 1 2008 2008
dbSNP: rs61751362
rs61751362
MECP2
7 0.790 0.160 X 154030948 stop gained G/A;C snv 1.6E-05 0.730 1.000 3 1975 2013
dbSNP: rs118203984
rs118203984
ALDH5A1
1 0.925 0.160 6 24528049 missense variant G/A snv 2.8E-05 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs28934904
rs28934904
MECP2
5 0.776 0.200 X 154031431 missense variant G/A;C;T snv 0.880 1.000 8 1999 2017
dbSNP: rs61748421
rs61748421
MECP2
4 0.807 0.200 X 154031326 stop gained G/A;T snv 0.740 1.000 4 1999 2014
dbSNP: rs61749721
rs61749721
MECP2
3 0.732 0.200 X 154031065 stop gained G/A snv 0.720 1.000 2 1999 2010
dbSNP: rs61749735
rs61749735
MECP2
3 0.925 0.200 X 154031162 synonymous variant G/A;C snv 5.4E-06; 3.8E-05 0.010 1.000 1 2006 2006
dbSNP: rs28935468
rs28935468
MECP2
4 0.732 0.240 X 154030912 missense variant G/A snv 0.870 1.000 7 1999 2017
dbSNP: rs61750240
rs61750240
MECP2
3 0.752 0.240 X 154031020 stop gained G/A;C snv 5.5E-06 0.760 1.000 6 2000 2016
dbSNP: rs28934908
rs28934908
MECP2
12 0.732 0.280 X 154031409 missense variant G/A;T snv 5.5E-06 0.710 1.000 1 2002 2016