rs758008398
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (-;-) | 0 | common/normal |
| (-;CATAAATT) | 3 | Carrier for a methylmalonic aciduria mutation |
| (CATAAATT;CATAAATT) | 8.8 | Methylmalonic aciduria (predicted) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 6 |
| Position | 49457765 |
| Gene | MUT |
| is a | snp |
| is | mentioned by |
| dbSNP | rs758008398 |
| dbSNP (classic) | rs758008398 |
| ClinGen | rs758008398 |
| ebi | rs758008398 |
| HLI | rs758008398 |
| Exac | rs758008398 |
| Gnomad | rs758008398 |
| Varsome | rs758008398 |
| LitVar | rs758008398 |
| Map | rs758008398 |
| PheGenI | rs758008398 |
| Biobank | rs758008398 |
| 1000 genomes | rs758008398 |
| hgdp | rs758008398 |
| ensembl | rs758008398 |
| geneview | rs758008398 |
| scholar | rs758008398 |
| rs758008398 | |
| pharmgkb | rs758008398 |
| gwascentral | rs758008398 |
| openSNP | rs758008398 |
| 23andMe | rs758008398 |
| SNPshot | rs758008398 |
| SNPdbe | rs758008398 |
| MSV3d | rs758008398 |
| GWAS Ctlg | rs758008398 |
| Max Magnitude | 8.8 |
aka c.678_679insAATTTATG, p.Val227fs; mutation seen in Hispanics
