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rs121912679

From SNPedia

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


Make rs121912679(A;A)
ReferenceGRCh38 38.1/141
Chromosome2
Position157761077
GeneACVR1
is asnp
is mentioned by
dbSNPrs121912679
ebirs121912679
HLIrs121912679
Exacrs121912679
Varsomers121912679
Maprs121912679
PheGenIrs121912679
hapmaprs121912679
1000 genomesrs121912679
hgdprs121912679
ensemblrs121912679
gopubmedrs121912679
geneviewrs121912679
scholarrs121912679
googlers121912679
pharmgkbrs121912679
gwascentralrs121912679
openSNPrs121912679
23andMers121912679
23andMe allrs121912679
SNP Nexus

SNPshotrs121912679
SNPdbers121912679
MSV3drs121912679
GWAS Ctlgrs121912679
Max Magnitude7
OMIM102576
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121912679(A;A)
Alt rs121912679(A;A)
Reference rs121912679(G;G)
Significance Pathogenic
Disease Progressive myositis ossificans
Variation info
Gene ACVR1
CLNDBN Progressive myositis ossificans
Reversed 1
HGVS NC_000002.11:g.158617589C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000019972.28,