rs796065034
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs796065034(-;-) |
| Make rs796065034(-;C) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 2 |
| Position | 25161452 |
| Gene | POMC |
| is a | snp |
| is | mentioned by |
| dbSNP | rs796065034 |
| dbSNP (classic) | rs796065034 |
| ClinGen | rs796065034 |
| ebi | rs796065034 |
| HLI | rs796065034 |
| Exac | rs796065034 |
| Gnomad | rs796065034 |
| Varsome | rs796065034 |
| LitVar | rs796065034 |
| Map | rs796065034 |
| PheGenI | rs796065034 |
| Biobank | rs796065034 |
| 1000 genomes | rs796065034 |
| hgdp | rs796065034 |
| ensembl | rs796065034 |
| geneview | rs796065034 |
| scholar | rs796065034 |
| rs796065034 | |
| pharmgkb | rs796065034 |
| gwascentral | rs796065034 |
| openSNP | rs796065034 |
| 23andMe | rs796065034 |
| SNPshot | rs796065034 |
| SNPdbe | rs796065034 |
| MSV3d | rs796065034 |
| GWAS Ctlg | rs796065034 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs796065034(-;-) |
| Alt | rs796065034(-;-) |
| Reference | Rs796065034(C;C) |
| Significance | Pathogenic |
| Disease | Proopiomelanocortin deficiency |
| Variation | info |
| Gene | POMC |
| CLNDBN | Proopiomelanocortin deficiency |
| Reversed | 1 |
| HGVS | NC_000002.11:g.25384321delG |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000014282.25, |
