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rs387906590

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;G) 7 Fibrodysplasia ossificans progressiva
(G;G) 0 common in clinvar


Make rs387906590(C;C)
ReferenceGRCh38 38.1/141
Chromosome2
Position157761020
GeneACVR1
is asnp
is mentioned by
dbSNPrs387906590
ebirs387906590
HLIrs387906590
Exacrs387906590
Varsomers387906590
Maprs387906590
PheGenIrs387906590
hapmaprs387906590
1000 genomesrs387906590
hgdprs387906590
ensemblrs387906590
gopubmedrs387906590
geneviewrs387906590
scholarrs387906590
googlers387906590
pharmgkbrs387906590
gwascentralrs387906590
openSNPrs387906590
23andMers387906590
23andMe allrs387906590
SNP Nexus

SNPshotrs387906590
SNPdbers387906590
MSV3drs387906590
GWAS Ctlgrs387906590
Max Magnitude7
ClinVar
Risk rs387906590(C;C)
Alt rs387906590(C;C)
Reference rs387906590(G;G)
Significance Pathogenic
Disease Progressive myositis ossificans
Variation info
Gene ACVR1
CLNDBN Progressive myositis ossificans
Reversed 1
HGVS NC_000002.11:g.158617532C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000022433.28,