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rs121912678

From SNPedia

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


Make rs121912678(A;A)
ReferenceGRCh38 38.1/141
Chromosome2
Position157774114
GeneACVR1
is asnp
is mentioned by
dbSNPrs121912678
ebirs121912678
HLIrs121912678
Exacrs121912678
Varsomers121912678
Maprs121912678
PheGenIrs121912678
hapmaprs121912678
1000 genomesrs121912678
hgdprs121912678
ensemblrs121912678
gopubmedrs121912678
geneviewrs121912678
scholarrs121912678
googlers121912678
pharmgkbrs121912678
gwascentralrs121912678
openSNPrs121912678
23andMers121912678
23andMe allrs121912678
SNP Nexus

SNPshotrs121912678
SNPdbers121912678
MSV3drs121912678
GWAS Ctlgrs121912678
Max Magnitude7
OMIM102576
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121912678(A;A) rs121912678(C;C)
Alt rs121912678(A;A) rs121912678(C;C)
Reference Rs121912678(G;G)
Significance Pathogenic
Disease Progressive myositis ossificans
Variation info
Gene ACVR1
CLNDBN Progressive myositis ossificans
Reversed 1
HGVS NC_000002.11:g.158630626C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000019971.27,