rs1146031, ACVR1

N. diseases: 2
Disease: Fibrodysplasia Ossificans Progressiva ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Fibrodysplasia Ossificans Progressiva
CUI: C0016037
Disease: Fibrodysplasia Ossificans Progressiva
0.010 GeneticVariation BEFREE By comparison to known mutations in genetic conditions of HO such as fibrodysplasia ossificans progressiva (FOP) and progressive osseous heteroplasia (POH), DNA sequencing analysis demonstrated the presence of a commonly occurring heterozygous synonymous polymorphism (c.690G>A; E230E) in the causative gene for FOP (ACVR1/ALK2). 29320714 2018