rs765547005
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs765547005(C;C) |
| Make rs765547005(C;T) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 12 |
| Position | 109557125 |
| Gene | MMAB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs765547005 |
| dbSNP (classic) | rs765547005 |
| ClinGen | rs765547005 |
| ebi | rs765547005 |
| HLI | rs765547005 |
| Exac | rs765547005 |
| Gnomad | rs765547005 |
| Varsome | rs765547005 |
| LitVar | rs765547005 |
| Map | rs765547005 |
| PheGenI | rs765547005 |
| Biobank | rs765547005 |
| 1000 genomes | rs765547005 |
| hgdp | rs765547005 |
| ensembl | rs765547005 |
| geneview | rs765547005 |
| scholar | rs765547005 |
| rs765547005 | |
| pharmgkb | rs765547005 |
| gwascentral | rs765547005 |
| openSNP | rs765547005 |
| 23andMe | rs765547005 |
| SNPshot | rs765547005 |
| SNPdbe | rs765547005 |
| MSV3d | rs765547005 |
| GWAS Ctlg | rs765547005 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs765547005(C;C) |
| Alt | rs765547005(C;C) |
| Reference | Rs765547005(T;T) |
| Significance | Pathogenic |
| Disease | Methylmalonic aciduria cblB type not specified |
| Variation | info |
| Gene | MMAB |
| CLNDBN | Methylmalonic aciduria cblB type not specified |
| Reversed | 0 |
| HGVS | NC_000012.11:g.109994930T>C |
| CLNSRC | |
| CLNACC | RCV000203386.1, RCV000424166.1, |
