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rs137852904

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137852904(G;T)
Make rs137852904(T;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position80036011
GeneANTXR2
is asnp
is mentioned by
dbSNPrs137852904
ebirs137852904
HLIrs137852904
Exacrs137852904
Varsomers137852904
Maprs137852904
PheGenIrs137852904
hapmaprs137852904
1000 genomesrs137852904
hgdprs137852904
ensemblrs137852904
gopubmedrs137852904
geneviewrs137852904
scholarrs137852904
googlers137852904
pharmgkbrs137852904
gwascentralrs137852904
openSNPrs137852904
23andMers137852904
23andMe allrs137852904
SNP Nexus

SNPshotrs137852904
SNPdbers137852904
MSV3drs137852904
GWAS Ctlgrs137852904
Max Magnitude0
OMIM608041
Desc
Variant0005
Relatedalso
ClinVar
Risk rs137852904(A,T;A,T)
Alt rs137852904(A,T;A,T)
Reference rs137852904(G;G)
Significance Pathogenic
Disease Hyaline fibromatosis syndrome
Variation info
Gene ANTXR2
CLNDBN Hyaline fibromatosis syndrome
Reversed 1
HGVS NC_000004.11:g.80957165C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000002720.2,