Source: CURATED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1557134999
rs1557134999
MECP2
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1557135315
rs1557135315
MECP2
C 0.700 CausalMutation CLINVAR

dbSNP: rs1557136332
rs1557136332
MECP2
C 0.700 CausalMutation CLINVAR

dbSNP: rs1557150846
rs1557150846
MECP2
TCTCCTCCTCGCCTCCTC 0.700 CausalMutation CLINVAR

dbSNP: rs1569548314
rs1569548314
MECP2
C 0.700 CausalMutation CLINVAR

dbSNP: rs179363900
rs179363900
MECP2
C 0.700 CausalMutation CLINVAR

dbSNP: rs267608428
rs267608428
MECP2
C 0.700 CausalMutation CLINVAR

dbSNP: rs267608466
rs267608466
MECP2
C 0.700 CausalMutation CLINVAR

dbSNP: rs267608488
rs267608488
MECP2
T 0.700 CausalMutation CLINVAR

dbSNP: rs28934907
rs28934907
MECP2
A 0.700 CausalMutation CLINVAR

dbSNP: rs61749723
rs61749723
MECP2
A 0.700 CausalMutation CLINVAR

dbSNP: rs61749751
rs61749751
MECP2
CG 0.700 CausalMutation CLINVAR

dbSNP: rs61753971
rs61753971
MECP2
0.700 GeneticVariation UNIPROT

dbSNP: rs62931162
rs62931162
MECP2
C 0.700 CausalMutation CLINVAR

dbSNP: rs786205048
rs786205048
MECP2
T 0.700 CausalMutation CLINVAR

dbSNP: rs28934904
rs28934904
MECP2
A 0.700 CausalMutation CLINVAR A 77-year-old woman and a preserved speech variant among the Danish Rett patients with mutations in MECP2. 11738879

2001
dbSNP: rs61750256
rs61750256
MECP2
G 0.700 CausalMutation CLINVAR A case of Rett syndrome from Ukraine--clinical diagnosis confirmed by mutation analysis of the MECP2 gene. 15633890

2004
dbSNP: rs28935468
rs28935468
MECP2
A 0.700 CausalMutation CLINVAR A detailed analysis of the MECP2 gene: prevalence of recurrent mutations and gross DNA rearrangements in Rett syndrome patients. 11214906

2001
dbSNP: rs28935468
rs28935468
MECP2
A 0.700 CausalMutation CLINVAR Activity-dependent phosphorylation of MeCP2 threonine 308 regulates interaction with NCoR. 23770587

2013
dbSNP: rs61751362
rs61751362
MECP2
A 0.700 CausalMutation CLINVAR Altered microtubule dynamics and vesicular transport in mouse and human MeCP2-deficient astrocytes. 26604147

2016
dbSNP: rs61748390
rs61748390
MECP2
C 0.700 CausalMutation CLINVAR Analysis of Hungarian patients with Rett syndrome phenotype for MECP2, CDKL5 and FOXG1 gene mutations. 21160487

2011
dbSNP: rs61750241
rs61750241
MECP2
G 0.700 CausalMutation CLINVAR Apneic crises: a clue for MECP2 testing in severe neonatal hypotonia-respiratory failure. 22497713

2012
dbSNP: rs61751362
rs61751362
MECP2
A 0.700 CausalMutation CLINVAR Apoptotic Activity of MeCP2 Is Enhanced by C-Terminal Truncating Mutations. 27442528

2016
dbSNP: rs61748421
rs61748421
MECP2
A 0.700 CausalMutation CLINVAR Characterization of the MeCP2R168X knockin mouse model for Rett syndrome. 25541993

2014
dbSNP: rs267608387
rs267608387
MECP2
A 0.700 CausalMutation CLINVAR Clinical stringency greatly improves mutation detection in Rett syndrome. 16225173

2005