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rs137852905

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs137852905(C;C)
Make rs137852905(C;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position80054342
GeneANTXR2
is asnp
is mentioned by
dbSNPrs137852905
dbSNP (classic)rs137852905
ClinGenrs137852905
ebirs137852905
HLIrs137852905
Exacrs137852905
Gnomadrs137852905
Varsomers137852905
LitVarrs137852905
Maprs137852905
PheGenIrs137852905
Biobankrs137852905
1000 genomesrs137852905
hgdprs137852905
ensemblrs137852905
geneviewrs137852905
scholarrs137852905
googlers137852905
pharmgkbrs137852905
gwascentralrs137852905
openSNPrs137852905
23andMers137852905
SNPshotrs137852905
SNPdbers137852905
MSV3drs137852905
GWAS Ctlgrs137852905
Max Magnitude0
OMIM608041
Desc
Variant0006
Relatedalso
ClinVar
Risk rs137852905(C;C)
Alt rs137852905(C;C)
Reference Rs137852905(T;T)
Significance Pathogenic
Disease Hyaline fibromatosis syndrome
Variation info
Gene ANTXR2
CLNDBN Hyaline fibromatosis syndrome
Reversed 1
HGVS NC_000004.11:g.80975496A>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000002721.2,