rs79783591
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs79783591(A;A) |
| Make rs79783591(A;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 18 |
| Position | 60371544 |
| Gene | MC4R |
| is a | snp |
| is | mentioned by |
| dbSNP | rs79783591 |
| dbSNP (classic) | rs79783591 |
| ClinGen | rs79783591 |
| ebi | rs79783591 |
| HLI | rs79783591 |
| Exac | rs79783591 |
| Gnomad | rs79783591 |
| Varsome | rs79783591 |
| LitVar | rs79783591 |
| Map | rs79783591 |
| PheGenI | rs79783591 |
| Biobank | rs79783591 |
| 1000 genomes | rs79783591 |
| hgdp | rs79783591 |
| ensembl | rs79783591 |
| geneview | rs79783591 |
| scholar | rs79783591 |
| rs79783591 | |
| pharmgkb | rs79783591 |
| gwascentral | rs79783591 |
| openSNP | rs79783591 |
| 23andMe | rs79783591 |
| SNPshot | rs79783591 |
| SNPdbe | rs79783591 |
| MSV3d | rs79783591 |
| GWAS Ctlg | rs79783591 |
| GMAF | 0.0004591 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs79783591(A;A) |
| Alt | rs79783591(A;A) |
| Reference | Rs79783591(T;T) |
| Significance | Probable-Pathogenic |
| Disease | Obesity |
| Variation | info |
| Gene | MC4R |
| CLNDBN | Obesity |
| Reversed | 1 |
| HGVS | NC_000018.9:g.58038777A>T |
| CLNSRC | ClinVar LabCorp |
| CLNACC | RCV000030158.1, |
[PMID 18801902
] Functional characterization and structural modeling of obesity associated mutations in the melanocortin 4 receptor.
