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rs4590183

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 rs4590183(C;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position42626104
GeneGHR
is asnp
is mentioned by
dbSNPrs4590183
dbSNP (old)rs4590183
ClinGenrs4590183
ebirs4590183
HLIrs4590183
Exacrs4590183
Varsomers4590183
Maprs4590183
PheGenIrs4590183
Biobankrs4590183
1000 genomesrs4590183
hgdprs4590183
ensemblrs4590183
gopubmedrs4590183
geneviewrs4590183
scholarrs4590183
googlers4590183
pharmgkbrs4590183
gwascentralrs4590183
openSNPrs4590183
23andMers4590183
23andMe allrs4590183
SNP Nexus

SNPshotrs4590183
SNPdbers4590183
MSV3drs4590183
GWAS Ctlgrs4590183
GMAF0.3154
Max Magnitude2

rs4590183 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 rs4590183(T) allele correlates with the more common allele containing exon 3; rs4590183(C) correlates with the less common d3-GHR allele lacking exon 3.[PMID 23740230OA-icon.png]


? (C;C) (C;T) (T;T) 28
[PMID 23740230] Relationship between the functional exon 3 deleted growth hormone receptor polymorphism and symptomatic osteoarthritis in women