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rs797045135

From SNPedia

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


Make rs797045135(C;C)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position157774144
GeneACVR1
is asnp
is mentioned by
dbSNPrs797045135
ebirs797045135
HLIrs797045135
Exacrs797045135
Varsomers797045135
Maprs797045135
PheGenIrs797045135
hapmaprs797045135
1000 genomesrs797045135
hgdprs797045135
ensemblrs797045135
gopubmedrs797045135
geneviewrs797045135
scholarrs797045135
googlers797045135
pharmgkbrs797045135
gwascentralrs797045135
openSNPrs797045135
23andMers797045135
23andMe allrs797045135
SNP Nexus

SNPshotrs797045135
SNPdbers797045135
MSV3drs797045135
GWAS Ctlgrs797045135
Max Magnitude7
ClinVar
Risk rs797045135(C;C)
Alt rs797045135(C;C)
Reference rs797045135(T;T)
Significance Pathogenic
Disease Progressive myositis ossificans
Variation info
Gene ACVR1
CLNDBN Progressive myositis ossificans
Reversed 1
HGVS NC_000002.11:g.158630656A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000190876.2,