Gene: MECP2 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1557137745
rs1557137745
MECP2
A 0.700 GeneticVariation CLINVAR Using a large international sample to investigate epilepsy in Rett syndrome. 23421866

2013
dbSNP: rs28934906
rs28934906
MECP2
A 0.700 CausalMutation CLINVAR Using a large international sample to investigate epilepsy in Rett syndrome. 23421866

2013
dbSNP: rs61748396
rs61748396
MECP2
C 0.700 CausalMutation CLINVAR Using a large international sample to investigate epilepsy in Rett syndrome. 23421866

2013
dbSNP: rs61749724
rs61749724
MECP2
C 0.700 CausalMutation CLINVAR Using a large international sample to investigate epilepsy in Rett syndrome. 23421866

2013
dbSNP: rs61750240
rs61750240
MECP2
A 0.700 CausalMutation CLINVAR Using a large international sample to investigate epilepsy in Rett syndrome. 23421866

2013
dbSNP: rs61750241
rs61750241
MECP2
G 0.700 CausalMutation CLINVAR Using a large international sample to investigate epilepsy in Rett syndrome. 23421866

2013
dbSNP: rs61751443
rs61751443
MECP2
G 0.700 GeneticVariation CLINVAR Using a large international sample to investigate epilepsy in Rett syndrome. 23421866

2013
dbSNP: rs1557136758
rs1557136758
MECP2
CT 0.700 CausalMutation CLINVAR Rett syndrome: revised diagnostic criteria and nomenclature. 21154482

2010
dbSNP: rs1557137745
rs1557137745
MECP2
A 0.700 GeneticVariation CLINVAR Rett syndrome: revised diagnostic criteria and nomenclature. 21154482

2010
dbSNP: rs28934906
rs28934906
MECP2
A 0.700 CausalMutation CLINVAR Rett syndrome: revised diagnostic criteria and nomenclature. 21154482

2010
dbSNP: rs61748396
rs61748396
MECP2
C 0.700 CausalMutation CLINVAR Rett syndrome: revised diagnostic criteria and nomenclature. 21154482

2010
dbSNP: rs61749724
rs61749724
MECP2
C 0.700 CausalMutation CLINVAR Rett syndrome: revised diagnostic criteria and nomenclature. 21154482

2010
dbSNP: rs61750240
rs61750240
MECP2
A 0.700 CausalMutation CLINVAR Rett syndrome: revised diagnostic criteria and nomenclature. 21154482

2010
dbSNP: rs61750241
rs61750241
MECP2
G 0.700 CausalMutation CLINVAR Rett syndrome: revised diagnostic criteria and nomenclature. 21154482

2010
dbSNP: rs61751443
rs61751443
MECP2
G 0.700 GeneticVariation CLINVAR Rett syndrome: revised diagnostic criteria and nomenclature. 21154482

2010
dbSNP: rs1557136758
rs1557136758
MECP2
CT 0.700 CausalMutation CLINVAR Specific mutations in methyl-CpG-binding protein 2 confer different severity in Rett syndrome. 18337588

2008
dbSNP: rs1557137745
rs1557137745
MECP2
A 0.700 GeneticVariation CLINVAR Specific mutations in methyl-CpG-binding protein 2 confer different severity in Rett syndrome. 18337588

2008
dbSNP: rs28934906
rs28934906
MECP2
A 0.700 CausalMutation CLINVAR Specific mutations in methyl-CpG-binding protein 2 confer different severity in Rett syndrome. 18337588

2008
dbSNP: rs61748396
rs61748396
MECP2
C 0.700 CausalMutation CLINVAR Specific mutations in methyl-CpG-binding protein 2 confer different severity in Rett syndrome. 18337588

2008
dbSNP: rs61749724
rs61749724
MECP2
C 0.700 CausalMutation CLINVAR Specific mutations in methyl-CpG-binding protein 2 confer different severity in Rett syndrome. 18337588

2008
dbSNP: rs61750240
rs61750240
MECP2
A 0.700 CausalMutation CLINVAR Specific mutations in methyl-CpG-binding protein 2 confer different severity in Rett syndrome. 18337588

2008
dbSNP: rs61750241
rs61750241
MECP2
G 0.700 CausalMutation CLINVAR Specific mutations in methyl-CpG-binding protein 2 confer different severity in Rett syndrome. 18337588

2008
dbSNP: rs61751443
rs61751443
MECP2
G 0.700 GeneticVariation CLINVAR Specific mutations in methyl-CpG-binding protein 2 confer different severity in Rett syndrome. 18337588

2008
dbSNP: rs1557136758
rs1557136758
MECP2
CT 0.700 CausalMutation CLINVAR MECP2 mutations in males. 17351020

2007
dbSNP: rs1557136758
rs1557136758
MECP2
CT 0.700 CausalMutation CLINVAR Partial rescue of MeCP2 deficiency by postnatal activation of MeCP2. 17267601

2007