MECP2, methyl-CpG binding protein 2, 4204

N. diseases: 324; N. variants: 57
Disease: Seizures ×
Source: BEFREE ×
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs61748389
rs61748389
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0036572
Disease:
Seizures 		0.010 GeneticVariation BEFREE An early seizure variant type of a male Rett syndrome patient with a MECP2 p.Arg133His missense mutation. 30569584 2019