Source: BEFREE ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs61748389
rs61748389
MECP2
0.720 GeneticVariation BEFREE An early seizure variant type of a male Rett syndrome patient with a MECP2 p.Arg133His missense mutation. 30569584

2019
dbSNP: rs61748389
rs61748389
MECP2
0.720 GeneticVariation BEFREE The change R133H was identified in a 13-year-old boy showing a classic RTT phenotype and normal karyotype. 11738885

2001