Gene: MECP2 ×
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: rs267608475
rs267608475
MECP2
2 0.925 0.120 X 154031415 stop gained A/G;T snv 0.710 1.000 1 1999 1999
dbSNP: rs61748381
rs61748381
MECP2
1 1.000 0.080 X 154031226 missense variant G/A snv 1.4E-03 1.5E-03 0.010 1.000 1 2006 2006
dbSNP: rs61748395
rs61748395
MECP2
1 1.000 0.080 X 154031406 missense variant T/C snv 0.010 1.000 1 2006 2006
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: rs267608597
rs267608597
MECP2
2 0.882 0.080 X 154030665 stop gained GG/TA mnv 0.010 1.000 1 2007 2007
dbSNP: rs179363900
rs179363900
MECP2
1 0.807 0.080 X 154031374 missense variant G/C snv 5.5E-06 1.9E-05 0.710 1.000 1 2009 2009
dbSNP: rs61749721
rs61749721
MECP2
3 0.732 0.200 X 154031065 stop gained G/A snv 0.720 1.000 2 1999 2010
dbSNP: rs61749720
rs61749720
MECP2
1 1.000 0.080 X 154031220 missense variant G/A;T snv 7.5E-04 0.010 1.000 1 2010 2010
dbSNP: rs267608563
rs267608563
MECP2
2 0.925 0.080 X 154030763 missense variant G/A;T snv 0.010 1.000 1 2012 2012
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: rs61751457
rs61751457
MECP2
2 0.925 0.080 X 154030799 frameshift variant C/-;CC delins 0.710 1.000 1 2012 2013
dbSNP: rs786205045
rs786205045
MECP2
1 1.000 0.080 X 154097618 synonymous variant G/A snv 0.710 1.000 1 2013 2013
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: rs61751364
rs61751364
MECP2
4 0.882 0.120 X 154030944 frameshift variant CGGAT/- delins 0.770 1.000 7 2005 2016
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: rs61751444
rs61751444
MECP2
2 0.882 0.080 X 154030903 missense variant G/A snv 0.720 1.000 2 2007 2016
dbSNP: rs267608591
rs267608591
MECP2
1 1.000 0.080 X 154030643 splice acceptor variant TCTCGGGCTCAGGTGGAGGTGGGGGC/- delins 0.710 1.000 1 2016 2016
dbSNP: rs267608595
rs267608595
MECP2
1 1.000 0.080 X 154030662 frameshift variant GTGGGGG/-;G delins 6.4E-05 0.010 1.000 1 2016 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
dbSNP: rs61751367
rs61751367
MECP2
2 0.925 0.080 X 154030939 stop gained G/A snv 0.710 1.000 1 2016 2016
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: 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: rs28934906
rs28934906
MECP2
8 0.716 0.320 X 154031355 missense variant G/A snv 0.900 1.000 11 1999 2017
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: rs28935468
rs28935468
MECP2
4 0.732 0.240 X 154030912 missense variant G/A snv 0.870 1.000 7 1999 2017