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rs6873545

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 2 d3/d3GHR homozygote; possibly longer longevity, at least in males
(T;T) 0 common/normal
Make rs6873545(C;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position42631162
GeneGHR
is asnp
is mentioned by
dbSNPrs6873545
dbSNP (classic)rs6873545
ClinGenrs6873545
ebirs6873545
HLIrs6873545
Exacrs6873545
Gnomadrs6873545
Varsomers6873545
LitVarrs6873545
Maprs6873545
PheGenIrs6873545
Biobankrs6873545
1000 genomesrs6873545
hgdprs6873545
ensemblrs6873545
geneviewrs6873545
scholarrs6873545
googlers6873545
pharmgkbrs6873545
gwascentralrs6873545
openSNPrs6873545
23andMers6873545
SNPshotrs6873545
SNPdbers6873545
MSV3drs6873545
GWAS Ctlgrs6873545
GMAF0.2952
Max Magnitude2

rs6873545 is one of several SNPs in the GHR gene that correlates with the presence or absence of exon 3 and thus the (germline) allele known as the d3-GHR allele. The rs6873545(T) allele correlates with the more common allele containing exon 3; rs6873545(C) correlates with the less common d3-GHR allele lacking exon 3.[PMID 17220348OA-icon.png]

? (C;C) (C;T) (T;T) 28


[PMID 23812803] The exon 3 polymorphism of the growth hormone receptor is a severity-related factor for osteoporosis


[PMID 24114431] SNPs within the GH signaling pathway are associated with the early IGF-I response to GH replacement therapy in GHD adults


[PMID 20219401] Rapid and high throughput genotyping of the growth hormone receptor exon 3 deleted/full-length polymorphism using a tagSNP.


[PMID 20445798OA-icon.png] Chromosome 5p Region SNPs Are Associated with Risk of NSCLC among Women.


[PMID 25742716] The growth hormone receptor exon 3-deleted/full-length polymorphism and response to growth hormone therapy in prepubertal idiopathic short children