rs495225
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs495225(C;T) |
| Make rs495225(T;T) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 3 |
| Position | 172448243 |
| Gene | GHSR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs495225 |
| dbSNP (classic) | rs495225 |
| ClinGen | rs495225 |
| ebi | rs495225 |
| HLI | rs495225 |
| Exac | rs495225 |
| Gnomad | rs495225 |
| Varsome | rs495225 |
| LitVar | rs495225 |
| Map | rs495225 |
| PheGenI | rs495225 |
| Biobank | rs495225 |
| 1000 genomes | rs495225 |
| hgdp | rs495225 |
| ensembl | rs495225 |
| geneview | rs495225 |
| scholar | rs495225 |
| rs495225 | |
| pharmgkb | rs495225 |
| gwascentral | rs495225 |
| openSNP | rs495225 |
| 23andMe | rs495225 |
| SNPshot | rs495225 |
| SNPdbe | rs495225 |
| MSV3d | rs495225 |
| GWAS Ctlg | rs495225 |
| GMAF | 0.3953 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 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
[PMID 21606657] Reward-Related Genes and Personality Traits in Alcohol-Dependent Individuals: A Pilot Case Control Study
[PMID 14715843] Ghrelin receptor gene: identification of several sequence variants in extremely obese children and adolescents, healthy normal-weight and underweight students, and children with short normal stature.
[PMID 17357083
] Medical sequencing at the extremes of human body mass.
[PMID 18647811] Ghrelin receptor gene polymorphisms and body size in children and adults.
[PMID 18698404] Variations in the ghrelin receptor gene associate with obesity and glucose metabolism in individuals with impaired glucose tolerance.
[PMID 19077438] Analysis of 30 genes (355 SNPS) related to energy homeostasis for association with adiposity in European-American and Yup'ik Eskimo populations.
[PMID 20404923] Family and population-based studies of variation within the ghrelin receptor locus in relation to measures of obesity.
[PMID 20586762] Genetic variation of the ghrelin signaling system in females with severe alcohol dependence.
[PMID 21448464] The ghrelin signalling system is involved in the consumption of sweets.
| ClinVar | |
|---|---|
| Risk | rs495225(A;A) rs495225(G;G) rs495225(T;T) |
| Alt | rs495225(A;A) rs495225(G;G) rs495225(T;T) |
| Reference | Rs495225(C;C) |
| Significance | Non-pathogenic |
| Disease | not specified Short stature |
| Variation | info |
| Gene | GHSR |
| CLNDBN | not specified Short stature, idiopathic, autosomal |
| Reversed | 1 |
| HGVS | NC_000003.11:g.172166033G>A |
| CLNSRC | |
| CLNACC | RCV000244530.2, RCV000359880.1, |
