Disease: Clinodactyly of the 5th finger ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1060499548
rs1060499548
Entrez Id: 25
Gene Symbol: ABL1
ABL1
CUI: C1850049
Disease:
Clinodactyly of the 5th finger 		A 0.700 CausalMutation CLINVAR Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations. 28288113 2017