Have questions? Visit https://www.reddit.com/r/SNPedia

rs797045485

From SNPedia

ClinVar
Risk rs797045485(C;C)
Alt rs797045485(C;C)
Reference rs797045485(;)
Significance Pathogenic
Disease Rubinstein-Taybi syndrome
Variation info
Gene CREBBP
CLNDBN Rubinstein-Taybi syndrome
Reversed 1
HGVS NC_000016.9:g.3820641dupG
CLNSRC
CLNACC RCV000194548.1,