rs1060499548, ABL1

N. diseases: 27
Disease: Frontal bossing ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Frontal bossing
CUI: C0221354
Disease: Frontal bossing
0.700 CausalMutation CLINVAR Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations. 28288113 2017