rs753564352
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs753564352(C;T) |
| Make rs753564352(T;T) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 6 |
| Position | 49444652 |
| Gene | MUT |
| is a | snp |
| is | mentioned by |
| dbSNP | rs753564352 |
| dbSNP (classic) | rs753564352 |
| ClinGen | rs753564352 |
| ebi | rs753564352 |
| HLI | rs753564352 |
| Exac | rs753564352 |
| Gnomad | rs753564352 |
| Varsome | rs753564352 |
| LitVar | rs753564352 |
| Map | rs753564352 |
| PheGenI | rs753564352 |
| Biobank | rs753564352 |
| 1000 genomes | rs753564352 |
| hgdp | rs753564352 |
| ensembl | rs753564352 |
| geneview | rs753564352 |
| scholar | rs753564352 |
| rs753564352 | |
| pharmgkb | rs753564352 |
| gwascentral | rs753564352 |
| openSNP | rs753564352 |
| 23andMe | rs753564352 |
| SNPshot | rs753564352 |
| SNPdbe | rs753564352 |
| MSV3d | rs753564352 |
| GWAS Ctlg | rs753564352 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs753564352(T;T) |
| Alt | rs753564352(T;T) |
| Reference | Rs753564352(C;C) |
| Significance | Pathogenic |
| Disease | not provided Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| Variation | info |
| Gene | MUT |
| CLNDBN | not provided Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| Reversed | 0 |
| HGVS | NC_000006.11:g.49412365C>T |
| CLNSRC | |
| CLNACC | RCV000186050.1, RCV000210837.1, |
