Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs61748381
rs61748381
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome
0.010 GeneticVariation BEFREE L100V and A201V are apparently disease-causing mutations in Korean RTT, contrary to previous studies. 16672765

2006