rs200596762
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 8.8 | Methylmalonic aciduria (predicted) |
| (A;G) | 3 | Carrier for a methylmalonic aciduria mutation |
| (G;G) | 0 | common in clinvar |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 6 |
| Position | 49457762 |
| Gene | MUT |
| is a | snp |
| is | mentioned by |
| dbSNP | rs200596762 |
| dbSNP (classic) | rs200596762 |
| ClinGen | rs200596762 |
| ebi | rs200596762 |
| HLI | rs200596762 |
| Exac | rs200596762 |
| Gnomad | rs200596762 |
| Varsome | rs200596762 |
| LitVar | rs200596762 |
| Map | rs200596762 |
| PheGenI | rs200596762 |
| Biobank | rs200596762 |
| 1000 genomes | rs200596762 |
| hgdp | rs200596762 |
| ensembl | rs200596762 |
| geneview | rs200596762 |
| scholar | rs200596762 |
| rs200596762 | |
| pharmgkb | rs200596762 |
| gwascentral | rs200596762 |
| openSNP | rs200596762 |
| 23andMe | rs200596762 |
| SNPshot | rs200596762 |
| SNPdbe | rs200596762 |
| MSV3d | rs200596762 |
| GWAS Ctlg | rs200596762 |
| Max Magnitude | 8.8 |
| ClinVar | |
|---|---|
| Risk | Rs200596762(A;A) |
| Alt | Rs200596762(A;A) |
| Reference | Rs200596762(G;G) |
| Significance | Pathogenic |
| Disease | not provided |
| Variation | info |
| Gene | MUT |
| CLNDBN | not provided |
| Reversed | 0 |
| HGVS | NC_000006.11:g.49425475G>A |
| CLNSRC | |
| CLNACC | RCV000186056.2, |
