Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs886041830
rs886041830
EP300
CUI: C3150941
Disease: RUBINSTEIN-TAYBI SYNDROME 2
RUBINSTEIN-TAYBI SYNDROME 2 		T 0.700 CausalMutation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015