Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs61751444
rs61751444
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		A 0.720 CausalMutation CLINVAR The MECP2 variant c.925C>T (p.Arg309Trp) causes intellectual disability in both males and females without classic features of Rett syndrome. 26936630

2016
dbSNP: rs61751444
rs61751444
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		A 0.720 CausalMutation CLINVAR Low significance of MECP2 mutations as a cause of mental retardation in Brazilian males. 17084570

2007
dbSNP: rs61751444
rs61751444
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		A 0.720 GeneticVariation CLINVAR