Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs61748408
rs61748408
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		T 0.700 GeneticVariation CLINVAR MECP2 mutations and clinical correlations in Greek children with Rett syndrome and associated neurodevelopmental disorders. 21982064

2012
dbSNP: rs61748408
rs61748408
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		T 0.700 GeneticVariation CLINVAR Spectrum of MECP2 mutations in New Zealand Rett syndrome patients. 19652677

2009
dbSNP: rs61748408
rs61748408
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		T 0.700 GeneticVariation CLINVAR Genotype-phenotype correlation in Brazillian Rett syndrome patients. 19722030

2009
dbSNP: rs61748408
rs61748408
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		T 0.700 GeneticVariation CLINVAR [Application of long range polymerase chain reaction and DNA direct sequencing in diagnosis of Rett syndrome]. 18021529

2007
dbSNP: rs61748408
rs61748408
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		T 0.700 GeneticVariation CLINVAR Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update. 16473305

2006
dbSNP: rs61748408
rs61748408
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		T 0.700 GeneticVariation CLINVAR Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms. 15737703

2005
dbSNP: rs61748408
rs61748408
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		T 0.700 GeneticVariation CLINVAR Spectrum of MECP2 mutations in Rett syndrome. 12180070

2002
dbSNP: rs61748408
rs61748408
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		T 0.700 GeneticVariation CLINVAR Influence of mutation type and location on phenotype in 123 patients with Rett syndrome. 12075485

2002
dbSNP: rs61748408
rs61748408
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		T 0.700 GeneticVariation CLINVAR Molecular analysis of Japanese patients with Rett syndrome: Identification of five novel mutations and genotype-phenotype correlation. 11524741

2001
dbSNP: rs61748408
rs61748408
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		T 0.700 GeneticVariation CLINVAR Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes. 10805343

2000
dbSNP: rs61748408
rs61748408
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		C 0.700 CausalMutation CLINVAR