rs4590183
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| 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) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 5 |
| Position | 42626104 |
| Gene | GHR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs4590183 |
| dbSNP (classic) | rs4590183 |
| ClinGen | rs4590183 |
| ebi | rs4590183 |
| HLI | rs4590183 |
| Exac | rs4590183 |
| Gnomad | rs4590183 |
| Varsome | rs4590183 |
| LitVar | rs4590183 |
| Map | rs4590183 |
| PheGenI | rs4590183 |
| Biobank | rs4590183 |
| 1000 genomes | rs4590183 |
| hgdp | rs4590183 |
| ensembl | rs4590183 |
| geneview | rs4590183 |
| scholar | rs4590183 |
| rs4590183 | |
| pharmgkb | rs4590183 |
| gwascentral | rs4590183 |
| openSNP | rs4590183 |
| 23andMe | rs4590183 |
| SNPshot | rs4590183 |
| SNPdbe | rs4590183 |
| MSV3d | rs4590183 |
| GWAS Ctlg | rs4590183 |
| GMAF | 0.3154 |
| Max Magnitude | 2 |
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 23740230
]
| ? | (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
