rs4988496
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in complete genomics |
| Make rs4988496(A;A) |
| Make rs4988496(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 7 |
| Position | 30969071 |
| Gene | GHRHR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs4988496 |
| dbSNP (classic) | rs4988496 |
| ClinGen | rs4988496 |
| ebi | rs4988496 |
| HLI | rs4988496 |
| Exac | rs4988496 |
| Gnomad | rs4988496 |
| Varsome | rs4988496 |
| LitVar | rs4988496 |
| Map | rs4988496 |
| PheGenI | rs4988496 |
| Biobank | rs4988496 |
| 1000 genomes | rs4988496 |
| hgdp | rs4988496 |
| ensembl | rs4988496 |
| geneview | rs4988496 |
| scholar | rs4988496 |
| rs4988496 | |
| pharmgkb | rs4988496 |
| gwascentral | rs4988496 |
| openSNP | rs4988496 |
| 23andMe | rs4988496 |
| SNPshot | rs4988496 |
| SNPdbe | rs4988496 |
| MSV3d | rs4988496 |
| GWAS Ctlg | rs4988496 |
| GMAF | 0.1162 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
[PMID 19487270] A study of relationships between single nucleotide polymorphisms from the growth hormone-insulin-like growth factor axis and bone mass: the Hertfordshire cohort study
| ClinVar | |
|---|---|
| Risk | rs4988496(A;A) |
| Alt | rs4988496(A;A) |
| Reference | Rs4988496(G;G) |
| Significance | Probable-non-pathogenic |
| Disease | Idiopathic growth hormone deficiency not specified Isolated Growth Hormone Deficiency |
| Variation | info |
| Gene | GHRHR |
| CLNDBN | Idiopathic growth hormone deficiency not specified Isolated Growth Hormone Deficiency |
| Reversed | 0 |
| HGVS | NC_000007.13:g.31008686G>A |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000029936.1, RCV000177091.1, RCV000328423.1, |
[PMID 12414] [Radial nerve lesion caused by lipoma situated in the supinator canal].
[PMID 10944436] A polymorphism in the growth hormone (GH)-releasing hormone (GHRH) receptor gene is associated with elevated response to GHRH by human pituitary somatotrophinomas in vitro.
[PMID 11298081] Absence of mutations in the growth hormone (GH)-releasing hormone receptor gene in GH-secreting pituitary adenomas.
[PMID 11502843] Absence of constitutively activating mutations in the GHRH receptor in GH-producing pituitary tumors.
[PMID 12163232] Growth hormone-releasing hormone and pituitary development, hyperplasia and tumorigenesis.
[PMID 16284391] Pituitary growth hormone and growth hormone-releasing hormone receptor genes and associations with mammographic measures and serum growth hormone.
