rs193922687
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (-;-) | 0 | common in clinvar |
| Make rs193922687(-;TG) |
| Make rs193922687(TG;TG) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 18 |
| Position | 60371513 |
| Gene | MC4R |
| is a | snp |
| is | mentioned by |
| dbSNP | rs193922687 |
| dbSNP (classic) | rs193922687 |
| ClinGen | rs193922687 |
| ebi | rs193922687 |
| HLI | rs193922687 |
| Exac | rs193922687 |
| Gnomad | rs193922687 |
| Varsome | rs193922687 |
| LitVar | rs193922687 |
| Map | rs193922687 |
| PheGenI | rs193922687 |
| Biobank | rs193922687 |
| 1000 genomes | rs193922687 |
| hgdp | rs193922687 |
| ensembl | rs193922687 |
| geneview | rs193922687 |
| scholar | rs193922687 |
| rs193922687 | |
| pharmgkb | rs193922687 |
| gwascentral | rs193922687 |
| openSNP | rs193922687 |
| 23andMe | rs193922687 |
| SNPshot | rs193922687 |
| SNPdbe | rs193922687 |
| MSV3d | rs193922687 |
| GWAS Ctlg | rs193922687 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs193922687(TG;TG) |
| Alt | rs193922687(TG;TG) |
| Reference | Rs193922687(-;-) |
| Significance | Pathogenic |
| Disease | Obesity |
| Variation | info |
| Gene | MC4R |
| CLNDBN | Obesity |
| Reversed | 1 |
| HGVS | NC_000018.9:g.58038747_58038748dupCA |
| CLNSRC | ClinVar LabCorp |
| CLNACC | RCV000030159.1, |
[PMID 16274851] Obesity-associated mutations in the human melanocortin-4 receptor gene.
[PMID 17229951
] Clinical and molecular genetic spectrum of congenital deficiency of the leptin receptor.
[PMID 18801902] Functional characterization and structural modeling of obesity associated mutations in the melanocortin 4 receptor.
