Gene: MECP2 ×
Source: CURATED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs61748391
rs61748391
MECP2
0.700 GeneticVariation UNIPROT Structure of the MeCP2-TBLR1 complex reveals a molecular basis for Rett syndrome and related disorders. 28348241

2017
dbSNP: rs61748406
rs61748406
MECP2
0.700 GeneticVariation UNIPROT Structure of the MeCP2-TBLR1 complex reveals a molecular basis for Rett syndrome and related disorders. 28348241

2017
dbSNP: rs61748407
rs61748407
MECP2
0.700 GeneticVariation UNIPROT Structure of the MeCP2-TBLR1 complex reveals a molecular basis for Rett syndrome and related disorders. 28348241

2017
dbSNP: rs61748417
rs61748417
MECP2
0.700 GeneticVariation UNIPROT Structure of the MeCP2-TBLR1 complex reveals a molecular basis for Rett syndrome and related disorders. 28348241

2017
dbSNP: rs61749730
rs61749730
MECP2
0.700 GeneticVariation UNIPROT Structure of the MeCP2-TBLR1 complex reveals a molecular basis for Rett syndrome and related disorders. 28348241

2017
dbSNP: rs61751373
rs61751373
MECP2
0.700 GeneticVariation UNIPROT Structure of the MeCP2-TBLR1 complex reveals a molecular basis for Rett syndrome and related disorders. 28348241

2017
dbSNP: rs61751441
rs61751441
MECP2
0.700 GeneticVariation UNIPROT Structure of the MeCP2-TBLR1 complex reveals a molecular basis for Rett syndrome and related disorders. 28348241

2017
dbSNP: rs61751450
rs61751450
MECP2
0.700 GeneticVariation UNIPROT Structure of the MeCP2-TBLR1 complex reveals a molecular basis for Rett syndrome and related disorders. 28348241

2017
dbSNP: rs61753000
rs61753000
MECP2
0.700 GeneticVariation UNIPROT Structure of the MeCP2-TBLR1 complex reveals a molecular basis for Rett syndrome and related disorders. 28348241

2017
dbSNP: rs267608465
rs267608465
MECP2
C 0.700 GeneticVariation CLINVAR Brief report: systematic review of Rett syndrome in males. 26254891

2015
dbSNP: rs61748391
rs61748391
MECP2
0.700 GeneticVariation UNIPROT Diagnostic yield of genetic testing in epileptic encephalopathy in childhood. 25818041

2015
dbSNP: rs61748406
rs61748406
MECP2
0.700 GeneticVariation UNIPROT Diagnostic yield of genetic testing in epileptic encephalopathy in childhood. 25818041

2015
dbSNP: rs61748407
rs61748407
MECP2
0.700 GeneticVariation UNIPROT Diagnostic yield of genetic testing in epileptic encephalopathy in childhood. 25818041

2015
dbSNP: rs61748417
rs61748417
MECP2
0.700 GeneticVariation UNIPROT Diagnostic yield of genetic testing in epileptic encephalopathy in childhood. 25818041

2015
dbSNP: rs61749730
rs61749730
MECP2
0.700 GeneticVariation UNIPROT Diagnostic yield of genetic testing in epileptic encephalopathy in childhood. 25818041

2015
dbSNP: rs61751373
rs61751373
MECP2
0.700 GeneticVariation UNIPROT Diagnostic yield of genetic testing in epileptic encephalopathy in childhood. 25818041

2015
dbSNP: rs61751441
rs61751441
MECP2
0.700 GeneticVariation UNIPROT Diagnostic yield of genetic testing in epileptic encephalopathy in childhood. 25818041

2015
dbSNP: rs61751450
rs61751450
MECP2
0.700 GeneticVariation UNIPROT Diagnostic yield of genetic testing in epileptic encephalopathy in childhood. 25818041

2015
dbSNP: rs61753000
rs61753000
MECP2
0.700 GeneticVariation UNIPROT Diagnostic yield of genetic testing in epileptic encephalopathy in childhood. 25818041

2015
dbSNP: rs267608465
rs267608465
MECP2
C 0.700 GeneticVariation CLINVAR Development of a genomic DNA reference material panel for Rett syndrome (MECP2-related disorders) genetic testing. 24508304

2014
dbSNP: rs1060499620
rs1060499620
MECP2
GCT 0.700 CausalMutation CLINVAR Detection of rarely identified multiple mutations in MECP2 gene do not contribute to enhanced severity in Rett syndrome. 23696494

2013
dbSNP: rs1060499621
rs1060499621
MECP2
G 0.700 CausalMutation CLINVAR Detection of rarely identified multiple mutations in MECP2 gene do not contribute to enhanced severity in Rett syndrome. 23696494

2013
dbSNP: rs1064792898
rs1064792898
MECP2
T 0.700 CausalMutation CLINVAR Detection of rarely identified multiple mutations in MECP2 gene do not contribute to enhanced severity in Rett syndrome. 23696494

2013
dbSNP: rs1064792899
rs1064792899
MECP2
A 0.700 GeneticVariation CLINVAR Detection of rarely identified multiple mutations in MECP2 gene do not contribute to enhanced severity in Rett syndrome. 23696494

2013
dbSNP: rs267608327
rs267608327
MECP2
T 0.700 CausalMutation CLINVAR Detection of rarely identified multiple mutations in MECP2 gene do not contribute to enhanced severity in Rett syndrome. 23696494

2013