Gene: ACVR1 ×
Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912678
rs121912678
ACVR1
T 0.900 CausalMutation CLINVAR

dbSNP: rs121912679
rs121912679
ACVR1
T 0.840 CausalMutation CLINVAR

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
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
T 0.820 CausalMutation CLINVAR

dbSNP: rs387906588
rs387906588
ACVR1
A 0.800 CausalMutation CLINVAR

dbSNP: rs387906588
rs387906588
ACVR1
T 0.800 CausalMutation CLINVAR

dbSNP: rs387906590
rs387906590
ACVR1
G 0.800 CausalMutation CLINVAR

dbSNP: rs387906591
rs387906591
ACVR1
A 0.800 CausalMutation CLINVAR

dbSNP: rs797045135
rs797045135
ACVR1
G 0.720 CausalMutation CLINVAR

dbSNP: rs863224846
rs863224846
ACVR1
C 0.710 GeneticVariation CLINVAR

dbSNP: rs121912680
rs121912680
ACVR1
G 0.700 CausalMutation CLINVAR