rs535411418
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 8.8 | Methylmalonic aciduria (predicted) |
| (A;C) | 3 | Carrier for a methylmalonic aciduria mutation |
| (C;C) | 0 | common/normal |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 6 |
| Position | 49459186 |
| Gene | MUT |
| is a | snp |
| is | mentioned by |
| dbSNP | rs535411418 |
| dbSNP (classic) | rs535411418 |
| ClinGen | rs535411418 |
| ebi | rs535411418 |
| HLI | rs535411418 |
| Exac | rs535411418 |
| Gnomad | rs535411418 |
| Varsome | rs535411418 |
| LitVar | rs535411418 |
| Map | rs535411418 |
| PheGenI | rs535411418 |
| Biobank | rs535411418 |
| 1000 genomes | rs535411418 |
| hgdp | rs535411418 |
| ensembl | rs535411418 |
| geneview | rs535411418 |
| scholar | rs535411418 |
| rs535411418 | |
| pharmgkb | rs535411418 |
| gwascentral | rs535411418 |
| openSNP | rs535411418 |
| 23andMe | rs535411418 |
| SNPshot | rs535411418 |
| SNPdbe | rs535411418 |
| MSV3d | rs535411418 |
| GWAS Ctlg | rs535411418 |
| Max Magnitude | 8.8 |
aka c.281G>T, p.Gly94Val, G94V; recurrent pathogenic mutation in African-Americans
