Source: BEFREE

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 		0.720 GeneticVariation BEFREE 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 		0.720 GeneticVariation BEFREE We also detected the c.925C >T (p.Arg309Trp) mutation in an affected patient, whose role in RTT pathogenesis is still unknown. 21160487

2011