Source: CURATED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs61749715
rs61749715
MECP2
C 0.700 CausalMutation CLINVAR Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location. 10767337

2000
dbSNP: rs1557135004
rs1557135004
MECP2
TA 0.700 CausalMutation CLINVAR Rett syndrome: analysis of MECP2 and clinical characterization of 31 patients. 10814718

2000
dbSNP: rs61748390
rs61748390
MECP2
C 0.700 CausalMutation CLINVAR Rett syndrome: analysis of MECP2 and clinical characterization of 31 patients. 10814718

2000
dbSNP: rs61748404
rs61748404
MECP2
C 0.700 CausalMutation CLINVAR Rett syndrome: analysis of MECP2 and clinical characterization of 31 patients. 10814718

2000
dbSNP: rs61753972
rs61753972
MECP2
T 0.700 CausalMutation CLINVAR Rett syndrome: analysis of MECP2 and clinical characterization of 31 patients. 10814718

2000
dbSNP: rs63749748
rs63749748
MECP2
T 0.700 CausalMutation CLINVAR Rett syndrome: analysis of MECP2 and clinical characterization of 31 patients. 10814718

2000
dbSNP: rs28934904
rs28934904
MECP2
A 0.700 CausalMutation CLINVAR Effects of Rett syndrome mutations of the methyl-CpG binding domain of the transcriptional repressor MeCP2 on selectivity for association with methylated DNA. 10852707

2000
dbSNP: rs28934906
rs28934906
MECP2
A 0.700 CausalMutation CLINVAR Effects of Rett syndrome mutations of the methyl-CpG binding domain of the transcriptional repressor MeCP2 on selectivity for association with methylated DNA. 10852707

2000
dbSNP: rs61749715
rs61749715
MECP2
C 0.700 CausalMutation CLINVAR Preserved speech variant is allelic of classic Rett syndrome. 10854091

2000
dbSNP: rs61750240
rs61750240
MECP2
A 0.700 CausalMutation CLINVAR Preserved speech variant is allelic of classic Rett syndrome. 10854091

2000
dbSNP: rs28935468
rs28935468
MECP2
A 0.700 CausalMutation CLINVAR Mutation analysis of the methyl-CpG binding protein 2 gene (MECP2) in patients with Rett syndrome. 10991688

2000
dbSNP: rs28934908
rs28934908
MECP2
A 0.700 CausalMutation CLINVAR MECP2 mutation in male patients with non-specific X-linked mental retardation. 11007980

2000
dbSNP: rs61748404
rs61748404
MECP2
C 0.700 CausalMutation CLINVAR Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms. 11055898

2000
dbSNP: rs61753972
rs61753972
MECP2
T 0.700 CausalMutation CLINVAR Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms. 11055898

2000
dbSNP: rs267608469
rs267608469
MECP2
A 0.700 CausalMutation CLINVAR Functional consequences of Rett syndrome mutations on human MeCP2. 11058114

2000
dbSNP: rs28934904
rs28934904
MECP2
A 0.700 CausalMutation CLINVAR Functional consequences of Rett syndrome mutations on human MeCP2. 11058114

2000
dbSNP: rs28934906
rs28934906
MECP2
A 0.700 CausalMutation CLINVAR Functional consequences of Rett syndrome mutations on human MeCP2. 11058114

2000
dbSNP: rs61748421
rs61748421
MECP2
A 0.700 CausalMutation CLINVAR Functional consequences of Rett syndrome mutations on human MeCP2. 11058114

2000
dbSNP: rs61749721
rs61749721
MECP2
A 0.700 CausalMutation CLINVAR Functional consequences of Rett syndrome mutations on human MeCP2. 11058114

2000
dbSNP: rs61750240
rs61750240
MECP2
A 0.700 CausalMutation CLINVAR Functional consequences of Rett syndrome mutations on human MeCP2. 11058114

2000
dbSNP: rs61750241
rs61750241
MECP2
G 0.700 CausalMutation CLINVAR Functional consequences of Rett syndrome mutations on human MeCP2. 11058114

2000
dbSNP: rs61751362
rs61751362
MECP2
A 0.700 CausalMutation CLINVAR Functional consequences of Rett syndrome mutations on human MeCP2. 11058114

2000
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: rs61748404
rs61748404
MECP2
C 0.700 CausalMutation CLINVAR Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions. 11241840

2001
dbSNP: rs61750240
rs61750240
MECP2
A 0.700 CausalMutation CLINVAR Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions. 11241840

2001