rs746219370
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 3 | Carrier of a methylmalonic aciduria type cblB mutation |
| Make rs746219370(T;T) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 12 |
| Position | 109561052 |
| Gene | MMAB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs746219370 |
| dbSNP (classic) | rs746219370 |
| ClinGen | rs746219370 |
| ebi | rs746219370 |
| HLI | rs746219370 |
| Exac | rs746219370 |
| Gnomad | rs746219370 |
| Varsome | rs746219370 |
| LitVar | rs746219370 |
| Map | rs746219370 |
| PheGenI | rs746219370 |
| Biobank | rs746219370 |
| 1000 genomes | rs746219370 |
| hgdp | rs746219370 |
| ensembl | rs746219370 |
| geneview | rs746219370 |
| scholar | rs746219370 |
| rs746219370 | |
| pharmgkb | rs746219370 |
| gwascentral | rs746219370 |
| openSNP | rs746219370 |
| 23andMe | rs746219370 |
| SNPshot | rs746219370 |
| SNPdbe | rs746219370 |
| MSV3d | rs746219370 |
| GWAS Ctlg | rs746219370 |
| Max Magnitude | 3 |
| ClinVar | |
|---|---|
| Risk | rs746219370(T;T) |
| Alt | rs746219370(T;T) |
| Reference | Rs746219370(C;C) |
| Significance | Pathogenic |
| Disease | Methylmalonic aciduria cblB type |
| Variation | info |
| Gene | MMAB |
| CLNDBN | Methylmalonic aciduria cblB type |
| Reversed | 0 |
| HGVS | NC_000012.11:g.109998857C>T |
| CLNSRC | |
| CLNACC | RCV000203356.1, |
