Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267608327
rs267608327
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		T 0.700 CausalMutation CLINVAR MECP2 gene study in a large cohort: testing of 240 female patients and 861 healthy controls (519 females and 342 males). 23810759

2013
dbSNP: rs267608327
rs267608327
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		T 0.700 CausalMutation CLINVAR Detection of rarely identified multiple mutations in MECP2 gene do not contribute to enhanced severity in Rett syndrome. 23696494

2013
dbSNP: rs267608327
rs267608327
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		T 0.700 CausalMutation CLINVAR Two new Rett syndrome families and review of the literature: expanding the knowledge of MECP2 frameshift mutations. 21878110

2011
dbSNP: rs267608327
rs267608327
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		T 0.700 CausalMutation CLINVAR Comprehensive diagnosis of Rett's syndrome relying on genetic, epigenetic and expression evidence of deficiency of the methyl-CpG-binding protein 2 gene: study of a cohort of Israeli patients. 17142618

2006
dbSNP: rs267608327
rs267608327
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		T 0.700 CausalMutation CLINVAR Screening of MECP2 coding sequence in patients with phenotypes of decreasing likelihood for Rett syndrome: a cohort of 171 cases. 15173251

2004