Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs61748396
rs61748396
MECP2
C 0.700 CausalMutation CLINVAR Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms. 17387578

2007
dbSNP: rs61748396
rs61748396
MECP2
C 0.700 CausalMutation CLINVAR MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome. 17089071

2007
dbSNP: rs61748396
rs61748396
MECP2
C 0.700 CausalMutation CLINVAR Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms. 15737703

2005
dbSNP: rs61748396
rs61748396
MECP2
C 0.700 CausalMutation CLINVAR Spectrum of MECP2 mutations in Rett syndrome. 12180070

2002
dbSNP: rs61748396
rs61748396
MECP2
C 0.700 CausalMutation CLINVAR MECP2 mutations in Danish patients with Rett syndrome: high frequency of mutations but no consistent correlations with clinical severity or with the X chromosome inactivation pattern. 11313756

2001