Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387906590
rs387906590
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: rs387906590
rs387906590
0.800 GeneticVariation UNIPROT Novel mutations in ACVR1 result in atypical features in two fibrodysplasia ossificans progressiva patients. 19330033

2009

dbSNP: rs387906590
rs387906590
0.800 GeneticVariation UNIPROT A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva. 16642017

2006

dbSNP: rs387906590
rs387906590
G 0.800 CausalMutation CLINVAR