rs52804924
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs52804924(G;T) |
| Make rs52804924(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 18 |
| Position | 60371454 |
| Gene | MC4R |
| is a | snp |
| is | mentioned by |
| dbSNP | rs52804924 |
| dbSNP (classic) | rs52804924 |
| ClinGen | rs52804924 |
| ebi | rs52804924 |
| HLI | rs52804924 |
| Exac | rs52804924 |
| Gnomad | rs52804924 |
| Varsome | rs52804924 |
| LitVar | rs52804924 |
| Map | rs52804924 |
| PheGenI | rs52804924 |
| Biobank | rs52804924 |
| 1000 genomes | rs52804924 |
| hgdp | rs52804924 |
| ensembl | rs52804924 |
| geneview | rs52804924 |
| scholar | rs52804924 |
| rs52804924 | |
| pharmgkb | rs52804924 |
| gwascentral | rs52804924 |
| openSNP | rs52804924 |
| 23andMe | rs52804924 |
| SNPshot | rs52804924 |
| SNPdbe | rs52804924 |
| MSV3d | rs52804924 |
| GWAS Ctlg | rs52804924 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs52804924(A;A) rs52804924(T;T) |
| Alt | rs52804924(A;A) rs52804924(T;T) |
| Reference | Rs52804924(G;G) |
| Significance | Pathogenic |
| Disease | Obesity |
| Variation | info |
| Gene | MC4R |
| CLNDBN | Obesity |
| Reversed | 0 |
| HGVS | NC_000018.9:g.58038687G>T |
| CLNSRC | ClinVar LabCorp |
| CLNACC | RCV000030160.1, |
[PMID 18559] Cyclic GMP in a neuroblastoma clone: possible involvement in morphological differentiation induced by dibutyryl cyclic AMP.
[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 16752916] Pharmacological characterization of 40 human melanocortin-4 receptor polymorphisms with the endogenous proopiomelanocortin-derived agonists and the agouti-related protein (AGRP) antagonist.
[PMID 17357083
] Medical sequencing at the extremes of human body mass.
[PMID 19091795] Association of functionally significant Melanocortin-4 but not Melanocortin-3 receptor mutations with severe adult obesity in a large North American case-control study.
