rs398123277
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (CTT;CTT) | 0 | common in clinvar |
| Make rs398123277(-;-) |
| Make rs398123277(-;CTT) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 6 |
| Position | 49440308 |
| Gene | MUT |
| is a | snp |
| is | mentioned by |
| dbSNP | rs398123277 |
| dbSNP (classic) | rs398123277 |
| ClinGen | rs398123277 |
| ebi | rs398123277 |
| HLI | rs398123277 |
| Exac | rs398123277 |
| Gnomad | rs398123277 |
| Varsome | rs398123277 |
| LitVar | rs398123277 |
| Map | rs398123277 |
| PheGenI | rs398123277 |
| Biobank | rs398123277 |
| 1000 genomes | rs398123277 |
| hgdp | rs398123277 |
| ensembl | rs398123277 |
| geneview | rs398123277 |
| scholar | rs398123277 |
| rs398123277 | |
| pharmgkb | rs398123277 |
| gwascentral | rs398123277 |
| openSNP | rs398123277 |
| 23andMe | rs398123277 |
| SNPshot | rs398123277 |
| SNPdbe | rs398123277 |
| MSV3d | rs398123277 |
| GWAS Ctlg | rs398123277 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs398123277(-;-) |
| Alt | rs398123277(-;-) |
| Reference | Rs398123277(CTT;CTT) |
| Significance | Pathogenic |
| Disease | not specified Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| Variation | info |
| Gene | MUT |
| CLNDBN | not specified Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| Reversed | 1 |
| HGVS | NC_000006.11:g.49408021_49408023delAAG |
| CLNSRC | |
| CLNACC | RCV000078442.4, RCV000210829.1, |
