rs747777227
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (-;-) | 0 | common in clinvar |
| Make rs747777227(-;T) |
| Make rs747777227(T;T) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 6 |
| Position | 49457751 |
| Gene | MUT |
| is a | snp |
| is | mentioned by |
| dbSNP | rs747777227 |
| dbSNP (classic) | rs747777227 |
| ClinGen | rs747777227 |
| ebi | rs747777227 |
| HLI | rs747777227 |
| Exac | rs747777227 |
| Gnomad | rs747777227 |
| Varsome | rs747777227 |
| LitVar | rs747777227 |
| Map | rs747777227 |
| PheGenI | rs747777227 |
| Biobank | rs747777227 |
| 1000 genomes | rs747777227 |
| hgdp | rs747777227 |
| ensembl | rs747777227 |
| geneview | rs747777227 |
| scholar | rs747777227 |
| rs747777227 | |
| pharmgkb | rs747777227 |
| gwascentral | rs747777227 |
| openSNP | rs747777227 |
| 23andMe | rs747777227 |
| SNPshot | rs747777227 |
| SNPdbe | rs747777227 |
| MSV3d | rs747777227 |
| GWAS Ctlg | rs747777227 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs747777227(T;T) |
| Alt | rs747777227(T;T) |
| Reference | Rs747777227(-;-) |
| 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.49425465dupT |
| CLNSRC | |
| CLNACC | RCV000235526.1, |
