Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387906589
rs387906589
ACVR1
T 0.820 GeneticVariation CLINVAR Structure of the bone morphogenetic protein receptor ALK2 and implications for fibrodysplasia ossificans progressiva. 22977237

2012
dbSNP: rs387906589
rs387906589
ACVR1
0.820 GeneticVariation BEFREE One 21-year-old woman with a variant FOP phenotype had the previously reported c.983G> A mutation (p.G328E). 19796185

2010
dbSNP: rs387906589
rs387906589
ACVR1
T 0.820 GeneticVariation CLINVAR 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: rs387906589
rs387906589
ACVR1
0.820 GeneticVariation BEFREE 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: rs387906589
rs387906589
ACVR1
0.820 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: rs387906589
rs387906589
ACVR1
0.820 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: rs387906589
rs387906589
ACVR1
0.820 GeneticVariation UNIPROT A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva. 16642017

2006
dbSNP: rs387906589
rs387906589
ACVR1
T 0.820 CausalMutation CLINVAR