rs762292772, SHANK3

N. diseases: 4
Disease: ATRIAL SEPTAL DEFECT 1 ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
ATRIAL SEPTAL DEFECT 1
CUI: C1862389
Disease: ATRIAL SEPTAL DEFECT 1
0.700 CausalMutation CLINVAR Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions. 25356970 2015