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rs387906588

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 7 Fibrodysplasia ossificans progressiva
Make rs387906588(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position157766005
GeneACVR1
is asnp
is mentioned by
dbSNPrs387906588
ebirs387906588
HLIrs387906588
Exacrs387906588
Varsomers387906588
Maprs387906588
PheGenIrs387906588
hapmaprs387906588
1000 genomesrs387906588
hgdprs387906588
ensemblrs387906588
gopubmedrs387906588
geneviewrs387906588
scholarrs387906588
googlers387906588
pharmgkbrs387906588
gwascentralrs387906588
openSNPrs387906588
23andMers387906588
23andMe allrs387906588
SNP Nexus

SNPshotrs387906588
SNPdbers387906588
MSV3drs387906588
GWAS Ctlgrs387906588
Max Magnitude7
ClinVar
Risk rs387906588(T;T)
Alt rs387906588(T;T)
Reference rs387906588(G;G)
Significance Pathogenic
Disease Progressive myositis ossificans
Variation info
Gene ACVR1
CLNDBN Progressive myositis ossificans
Reversed 1
HGVS NC_000002.11:g.158622517C>A; NC_000002.11:g.158622517C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000022431.28, RCV000022430.28,