rs756414548
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs756414548(C;T) |
| Make rs756414548(T;T) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 12 |
| Position | 109561055 |
| Gene | MMAB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs756414548 |
| dbSNP (classic) | rs756414548 |
| ClinGen | rs756414548 |
| ebi | rs756414548 |
| HLI | rs756414548 |
| Exac | rs756414548 |
| Gnomad | rs756414548 |
| Varsome | rs756414548 |
| LitVar | rs756414548 |
| Map | rs756414548 |
| PheGenI | rs756414548 |
| Biobank | rs756414548 |
| 1000 genomes | rs756414548 |
| hgdp | rs756414548 |
| ensembl | rs756414548 |
| geneview | rs756414548 |
| scholar | rs756414548 |
| rs756414548 | |
| pharmgkb | rs756414548 |
| gwascentral | rs756414548 |
| openSNP | rs756414548 |
| 23andMe | rs756414548 |
| SNPshot | rs756414548 |
| SNPdbe | rs756414548 |
| MSV3d | rs756414548 |
| GWAS Ctlg | rs756414548 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs756414548(T;T) |
| Alt | rs756414548(T;T) |
| Reference | Rs756414548(C;C) |
| Significance | Pathogenic |
| Disease | not provided Methylmalonic aciduria cblB type |
| Variation | info |
| Gene | MMAB |
| CLNDBN | not provided Methylmalonic aciduria cblB type |
| Reversed | 0 |
| HGVS | NC_000012.11:g.109998860C>T |
| CLNSRC | |
| CLNACC | RCV000186018.2, RCV000203392.1, |
