Source: UNIPROT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912678
rs121912678
ACVR1
CUI: C0016037
Disease: Fibrodysplasia Ossificans Progressiva
Fibrodysplasia Ossificans Progressiva 		0.900 GeneticVariation UNIPROT While the recurrent c.617G>A; p.R206H mutation was found in all cases of classic FOP and most cases of FOP-plus, novel ACVR1 mutations occur in the FOP variants and two cases of FOP-plus. 19085907

2009
dbSNP: rs121912678
rs121912678
ACVR1
CUI: C0016037
Disease: Fibrodysplasia Ossificans Progressiva
Fibrodysplasia Ossificans Progressiva 		0.900 GeneticVariation UNIPROT FOP has been shown to result from a point mutation (c.617G>A) in the ACVR1 gene in almost all patients reported. 19330033

2009
dbSNP: rs121912678
rs121912678
ACVR1
CUI: C0016037
Disease: Fibrodysplasia Ossificans Progressiva
Fibrodysplasia Ossificans Progressiva 		0.900 GeneticVariation UNIPROT We mapped FOP to chromosome 2q23-24 by linkage analysis and identified an identical heterozygous mutation (617G --> A; R206H) in the glycine-serine (GS) activation domain of ACVR1, a BMP type I receptor, in all affected individuals examined. 16642017

2006