Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267608438
rs267608438
C 0.700 CausalMutation CLINVAR Detection of rarely identified multiple mutations in MECP2 gene do not contribute to enhanced severity in Rett syndrome. 23696494

2013

dbSNP: rs267608438
rs267608438
C 0.700 CausalMutation CLINVAR Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms. 15737703

2005