rs1060499548, ABL1

N. diseases: 27
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
0.700 CausalMutation CLINVAR Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations. 28288113 2017