rs61748381, MECP2

N. diseases: 1
Source: BEFREE ×
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Rett Syndrome
CUI: C0035372
Disease: Rett Syndrome
0.010 GeneticVariation BEFREE L100V and A201V are apparently disease-causing mutations in Korean RTT, contrary to previous studies. 16672765 2006