Gene: MECP2 ×
Source: UNIPROT ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs61753000
rs61753000
MECP2
0.700 GeneticVariation UNIPROT Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. 10508514

1999
dbSNP: rs28934906
rs28934906
MECP2
0.900 GeneticVariation UNIPROT 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: rs28934906
rs28934906
MECP2
0.900 GeneticVariation UNIPROT Mutational analysis of the MECP2 gene in Japanese patients with Rett syndrome. 10944854

2000
dbSNP: rs28934906
rs28934906
MECP2
0.900 GeneticVariation UNIPROT Mutations in the MECP2 gene in a cohort of girls with Rett syndrome. 10991689

2000
dbSNP: rs28934906
rs28934906
MECP2
0.900 GeneticVariation UNIPROT MECP2 mutations account for most cases of typical forms of Rett syndrome. 10814719

2000
dbSNP: rs28934906
rs28934906
MECP2
0.900 GeneticVariation UNIPROT Mutation analysis of the methyl-CpG binding protein 2 gene (MECP2) in patients with Rett syndrome. 10991688

2000
dbSNP: rs28934906
rs28934906
MECP2
0.900 GeneticVariation UNIPROT Mutation screening in Rett syndrome patients. 10745042

2000
dbSNP: rs28934906
rs28934906
MECP2
0.900 GeneticVariation UNIPROT Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location. 10767337

2000
dbSNP: rs28934904
rs28934904
MECP2
0.880 GeneticVariation UNIPROT Mutational analysis of the MECP2 gene in Japanese patients with Rett syndrome. 10944854

2000
dbSNP: rs28934904
rs28934904
MECP2
0.880 GeneticVariation UNIPROT Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location. 10767337

2000
dbSNP: rs28934904
rs28934904
MECP2
0.880 GeneticVariation UNIPROT 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: rs28934904
rs28934904
MECP2
0.880 GeneticVariation UNIPROT MECP2 mutations account for most cases of typical forms of Rett syndrome. 10814719

2000
dbSNP: rs28934904
rs28934904
MECP2
0.880 GeneticVariation UNIPROT Mutation analysis of the methyl-CpG binding protein 2 gene (MECP2) in patients with Rett syndrome. 10991688

2000
dbSNP: rs28934904
rs28934904
MECP2
0.880 GeneticVariation UNIPROT Mutations in the MECP2 gene in a cohort of girls with Rett syndrome. 10991689

2000
dbSNP: rs28934904
rs28934904
MECP2
0.880 GeneticVariation UNIPROT Mutation screening in Rett syndrome patients. 10745042

2000
dbSNP: rs28935468
rs28935468
MECP2
0.870 GeneticVariation UNIPROT Mutation analysis of the methyl-CpG binding protein 2 gene (MECP2) in patients with Rett syndrome. 10991688

2000
dbSNP: rs28935468
rs28935468
MECP2
0.870 GeneticVariation UNIPROT 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: rs28935468
rs28935468
MECP2
0.870 GeneticVariation UNIPROT Mutational analysis of the MECP2 gene in Japanese patients with Rett syndrome. 10944854

2000
dbSNP: rs28935468
rs28935468
MECP2
0.870 GeneticVariation UNIPROT MECP2 mutations account for most cases of typical forms of Rett syndrome. 10814719

2000
dbSNP: rs28935468
rs28935468
MECP2
0.870 GeneticVariation UNIPROT Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location. 10767337

2000
dbSNP: rs28935468
rs28935468
MECP2
0.870 GeneticVariation UNIPROT Mutation screening in Rett syndrome patients. 10745042

2000
dbSNP: rs28935468
rs28935468
MECP2
0.870 GeneticVariation UNIPROT Mutations in the MECP2 gene in a cohort of girls with Rett syndrome. 10991689

2000
dbSNP: rs28934907
rs28934907
MECP2
0.840 GeneticVariation UNIPROT Mutations in the MECP2 gene in a cohort of girls with Rett syndrome. 10991689

2000
dbSNP: rs28934907
rs28934907
MECP2
0.840 GeneticVariation UNIPROT Mutational analysis of the MECP2 gene in Japanese patients with Rett syndrome. 10944854

2000
dbSNP: rs28934907
rs28934907
MECP2
0.840 GeneticVariation UNIPROT Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location. 10767337

2000