rs13447325
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs13447325(A;T) |
| Make rs13447325(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 18 |
| Position | 60372240 |
| Gene | MC4R |
| is a | snp |
| is | mentioned by |
| dbSNP | rs13447325 |
| dbSNP (classic) | rs13447325 |
| ClinGen | rs13447325 |
| ebi | rs13447325 |
| HLI | rs13447325 |
| Exac | rs13447325 |
| Gnomad | rs13447325 |
| Varsome | rs13447325 |
| LitVar | rs13447325 |
| Map | rs13447325 |
| PheGenI | rs13447325 |
| Biobank | rs13447325 |
| 1000 genomes | rs13447325 |
| hgdp | rs13447325 |
| ensembl | rs13447325 |
| geneview | rs13447325 |
| scholar | rs13447325 |
| rs13447325 | |
| pharmgkb | rs13447325 |
| gwascentral | rs13447325 |
| openSNP | rs13447325 |
| 23andMe | rs13447325 |
| SNPshot | rs13447325 |
| SNPdbe | rs13447325 |
| MSV3d | rs13447325 |
| GWAS Ctlg | rs13447325 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs13447325(T;T) |
| Alt | rs13447325(T;T) |
| Reference | Rs13447325(A;A) |
| Significance | Pathogenic |
| Disease | Obesity not specified |
| Variation | info |
| Gene | MC4R |
| CLNDBN | Obesity not specified |
| Reversed | 1 |
| HGVS | NC_000018.9:g.58039473T>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000015395.30, RCV000435394.1, |
[PMID 18559] Cyclic GMP in a neuroblastoma clone: possible involvement in morphological differentiation induced by dibutyryl cyclic AMP.
[PMID 10199800] Several mutations in the melanocortin-4 receptor gene including a nonsense and a frameshift mutation associated with dominantly inherited obesity in humans.
[PMID 12499395] Intracellular retention is a common characteristic of childhood obesity-associated MC4R mutations.
[PMID 16274851] Obesity-associated mutations in the human melanocortin-4 receptor gene.
[PMID 16507637] Melanocortin 4 receptor mutations in a large cohort of severely obese adults: prevalence, functional classification, genotype-phenotype relationship, and lack of association with binge eating.
[PMID 16752916] Pharmacological characterization of 40 human melanocortin-4 receptor polymorphisms with the endogenous proopiomelanocortin-derived agonists and the agouti-related protein (AGRP) antagonist.
