Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs768000961
rs768000961
CCNA2
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.010 GeneticVariation BEFREE In addition to three frequent polymorphisms, we identified an extremely rare novel heterozygous missense mutation (c.139C > T; p.R47W) in one patient with severe ASD. 25135600

2015