rs483352999, TBX20

N. diseases: 1
Disease: Atrial Septal Defects ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Atrial Septal Defects
CUI: C0018817
Disease: Atrial Septal Defects
0.010 GeneticVariation BEFREE We report three missense mutations (Y309D, T370O, and M395R) within the transcriptional activator domain of human TBX20 that were associated with ASD. 25834824 2015