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: rs267608454
rs267608454
MECP2
1 1.000 0.080 X 154032226 missense variant A/C snv 0.720 1.000 2 1999 2018
dbSNP: rs61748389
rs61748389
MECP2
2 1.000 0.080 X 154031430 missense variant C/A;T snv 0.720 1.000 2 1999 2019
dbSNP: rs61751444
rs61751444
MECP2
2 0.882 0.080 X 154030903 missense variant G/A snv 0.720 1.000 2 2007 2016
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: rs267608563
rs267608563
MECP2
2 0.925 0.080 X 154030763 missense variant G/A;T snv 0.010 1.000 1 2012 2012
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: rs267608597
rs267608597
MECP2
2 0.882 0.080 X 154030665 stop gained GG/TA mnv 0.010 1.000 1 2007 2007
dbSNP: rs28934905
rs28934905
MECP2
1 1.000 0.080 X 154031364 missense variant A/C;G snv 0.810 1.000 1 1999 2017
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: rs61748383
rs61748383
MECP2
1 1.000 0.080 X 154031445 missense variant T/G snv 0.710 1.000 1 1999 2017
dbSNP: rs61748390
rs61748390
MECP2
1 0.925 0.080 X 154031427 missense variant G/A;C snv 0.810 1.000 1 1988 2017
dbSNP: rs61748395
rs61748395
MECP2
1 1.000 0.080 X 154031406 missense variant T/C snv 0.010 1.000 1 2006 2006
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: rs61749738
rs61749738
MECP2
2 1.000 0.080 X 154031145 missense variant G/C snv 7.4E-04 2.9E-03 0.010 1.000 1 2017 2017
dbSNP: rs61751367
rs61751367
MECP2
2 0.925 0.080 X 154030939 stop gained G/A snv 0.710 1.000 1 2016 2016
dbSNP: rs61751457
rs61751457
MECP2
2 0.925 0.080 X 154030799 frameshift variant C/-;CC delins 0.710 1.000 1 2012 2013
dbSNP: rs61752361
rs61752361
MECP2
2 0.925 0.080 X 154030798 missense variant G/A;C snv 3.8E-05 0.710 1.000 1 1999 2017
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: 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: 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