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rs137852552

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137852552(C;T)
Make rs137852552(T;T)
ReferenceGRCh38 38.1/141
ChromosomeY
Position641037
GeneSHOX
is asnp
is mentioned by
dbSNPrs137852552
ebirs137852552
HLIrs137852552
Exacrs137852552
Varsomers137852552
Maprs137852552
PheGenIrs137852552
hapmaprs137852552
1000 genomesrs137852552
hgdprs137852552
ensemblrs137852552
gopubmedrs137852552
geneviewrs137852552
scholarrs137852552
googlers137852552
pharmgkbrs137852552
gwascentralrs137852552
openSNPrs137852552
23andMers137852552
23andMe allrs137852552
SNP Nexus

SNPshotrs137852552
SNPdbers137852552
MSV3drs137852552
GWAS Ctlgrs137852552
Y Chromrs137852552
Max Magnitude0
OMIM312865
Desc
Variant0001
Relatedalso
ClinVar
Risk rs137852552(A,T;A,T)
Alt rs137852552(A,T;A,T)
Reference rs137852552(C;C)
Significance Pathogenic
Disease Short stature
Variation info
Gene SHOX
CLNDBN Short stature, idiopathic, X-linked
Reversed 0
HGVS NC_000023.10:g.601772C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000010547.3,


[PMID 17047] [In memoriam: Dr. Fritz Arndts].

[PMID 10634394] Identification of short stature caused by SHOX defects and therapeutic effect of recombinant human growth hormone.

[PMID 10749976] The short stature homeobox gene SHOX is involved in skeletal abnormalities in Turner syndrome.

[PMID 11739418] Phenotypes Associated with SHOX Deficiency.

[PMID 12362035OA-icon.png] Prevalence of mutations in the short stature homeobox containing gene (SHOX) in Madelung deformity of childhood.

[PMID 17028440] Unique deletion in exon 5 of SHOX gene in a patient with idiopathic short stature.