rs869320655
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;T) | 3 | Carrier of a methylmalonic aciduria type cblB mutation |
| (T;T) | 0 | common in clinvar |
| Make rs869320655(C;C) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 12 |
| Position | 109573479 |
| Gene | MMAB, MVK |
| is a | snp |
| is | mentioned by |
| dbSNP | rs869320655 |
| dbSNP (classic) | rs869320655 |
| ClinGen | rs869320655 |
| ebi | rs869320655 |
| HLI | rs869320655 |
| Exac | rs869320655 |
| Gnomad | rs869320655 |
| Varsome | rs869320655 |
| LitVar | rs869320655 |
| Map | rs869320655 |
| PheGenI | rs869320655 |
| Biobank | rs869320655 |
| 1000 genomes | rs869320655 |
| hgdp | rs869320655 |
| ensembl | rs869320655 |
| geneview | rs869320655 |
| scholar | rs869320655 |
| rs869320655 | |
| pharmgkb | rs869320655 |
| gwascentral | rs869320655 |
| openSNP | rs869320655 |
| 23andMe | rs869320655 |
| SNPshot | rs869320655 |
| SNPdbe | rs869320655 |
| MSV3d | rs869320655 |
| GWAS Ctlg | rs869320655 |
| Max Magnitude | 3 |
| ClinVar | |
|---|---|
| Risk | rs869320655(C;C) |
| Alt | rs869320655(C;C) |
| Reference | Rs869320655(T;T) |
| Significance | Pathogenic |
| Disease | Methylmalonic aciduria cblB type |
| Variation | info |
| Gene | MVK MMAB |
| CLNDBN | Methylmalonic aciduria cblB type |
| Reversed | 1 |
| HGVS | NC_000012.11:g.110011284A>G |
| CLNSRC | |
| CLNACC | RCV000210846.1, |
