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rs387906591

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 7 Fibrodysplasia ossificans progressiva
Make rs387906591(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position157774126
GeneACVR1
is asnp
is mentioned by
dbSNPrs387906591
ebirs387906591
HLIrs387906591
Exacrs387906591
Varsomers387906591
Maprs387906591
PheGenIrs387906591
hapmaprs387906591
1000 genomesrs387906591
hgdprs387906591
ensemblrs387906591
gopubmedrs387906591
geneviewrs387906591
scholarrs387906591
googlers387906591
pharmgkbrs387906591
gwascentralrs387906591
openSNPrs387906591
23andMers387906591
23andMe allrs387906591
SNP Nexus

SNPshotrs387906591
SNPdbers387906591
MSV3drs387906591
GWAS Ctlgrs387906591
Max Magnitude7
ClinVar
Risk rs387906591(T;T)
Alt rs387906591(T;T)
Reference rs387906591(G;G)
Significance Pathogenic
Disease Progressive myositis ossificans
Variation info
Gene ACVR1
CLNDBN Progressive myositis ossificans
Reversed 1
HGVS NC_000002.11:g.158630638C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000022434.28,