rs758577372
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Make rs758577372(C;T) |
| Make rs758577372(T;T) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 6 |
| Position | 49453691 |
| Gene | MUT |
| is a | snp |
| is | mentioned by |
| dbSNP | rs758577372 |
| dbSNP (classic) | rs758577372 |
| ClinGen | rs758577372 |
| ebi | rs758577372 |
| HLI | rs758577372 |
| Exac | rs758577372 |
| Gnomad | rs758577372 |
| Varsome | rs758577372 |
| LitVar | rs758577372 |
| Map | rs758577372 |
| PheGenI | rs758577372 |
| Biobank | rs758577372 |
| 1000 genomes | rs758577372 |
| hgdp | rs758577372 |
| ensembl | rs758577372 |
| geneview | rs758577372 |
| scholar | rs758577372 |
| rs758577372 | |
| pharmgkb | rs758577372 |
| gwascentral | rs758577372 |
| openSNP | rs758577372 |
| 23andMe | rs758577372 |
| SNPshot | rs758577372 |
| SNPdbe | rs758577372 |
| MSV3d | rs758577372 |
| GWAS Ctlg | rs758577372 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs758577372(T;T) |
| Alt | rs758577372(T;T) |
| Reference | Rs758577372(C;C) |
| Significance | Pathogenic |
| Disease | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| Variation | info |
| Gene | MUT |
| CLNDBN | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| Reversed | 0 |
| HGVS | NC_000006.11:g.49421404C>T |
| CLNSRC | |
| CLNACC | RCV000236170.1, |
