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rs121912680

From SNPedia

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


Make rs121912680(C;C)
ReferenceGRCh38 38.1/141
Chromosome2
Position157770384
GeneACVR1
is asnp
is mentioned by
dbSNPrs121912680
ebirs121912680
HLIrs121912680
Exacrs121912680
Varsomers121912680
Maprs121912680
PheGenIrs121912680
hapmaprs121912680
1000 genomesrs121912680
hgdprs121912680
ensemblrs121912680
gopubmedrs121912680
geneviewrs121912680
scholarrs121912680
googlers121912680
pharmgkbrs121912680
gwascentralrs121912680
openSNPrs121912680
23andMers121912680
23andMe allrs121912680
SNP Nexus

SNPshotrs121912680
SNPdbers121912680
MSV3drs121912680
GWAS Ctlgrs121912680
Max Magnitude7
OMIM102576
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121912680(A,C;A,C)
Alt rs121912680(A,C;A,C)
Reference rs121912680(G;G)
Significance Pathogenic
Disease Progressive myositis ossificans
Variation info
Gene ACVR1
CLNDBN Progressive myositis ossificans
Reversed 1
HGVS NC_000002.11:g.158626896C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000019973.28,