Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387906591
rs387906591
ACVR1
0.800 GeneticVariation UNIPROT Classic and atypical fibrodysplasia ossificans progressiva (FOP) phenotypes are caused by mutations in the bone morphogenetic protein (BMP) type I receptor ACVR1. 19085907

2009
dbSNP: rs387906591
rs387906591
ACVR1
0.800 GeneticVariation UNIPROT We present here evidence for two further unique mutations (c.605G>T and c.983G>A) in this gene in two FOP patients with some atypical digit abnormalities and other clinical features. 19330033

2009
dbSNP: rs387906591
rs387906591
ACVR1
0.800 GeneticVariation UNIPROT A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva. 16642017

2006
dbSNP: rs387906591
rs387906591
ACVR1
A 0.800 CausalMutation CLINVAR