rs763935916
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;C) | 3 | Carrier of a methylmalonic aciduria type cblB mutation |
| (C;C) | 0 | common in clinvar |
| Make rs763935916(A;A) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 12 |
| Position | 109568864 |
| Gene | MMAB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs763935916 |
| dbSNP (classic) | rs763935916 |
| ClinGen | rs763935916 |
| ebi | rs763935916 |
| HLI | rs763935916 |
| Exac | rs763935916 |
| Gnomad | rs763935916 |
| Varsome | rs763935916 |
| LitVar | rs763935916 |
| Map | rs763935916 |
| PheGenI | rs763935916 |
| Biobank | rs763935916 |
| 1000 genomes | rs763935916 |
| hgdp | rs763935916 |
| ensembl | rs763935916 |
| geneview | rs763935916 |
| scholar | rs763935916 |
| rs763935916 | |
| pharmgkb | rs763935916 |
| gwascentral | rs763935916 |
| openSNP | rs763935916 |
| 23andMe | rs763935916 |
| SNPshot | rs763935916 |
| SNPdbe | rs763935916 |
| MSV3d | rs763935916 |
| GWAS Ctlg | rs763935916 |
| Max Magnitude | 3 |
| ClinVar | |
|---|---|
| Risk | rs763935916(A;A) |
| Alt | rs763935916(A;A) |
| Reference | Rs763935916(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.110006669C>A |
| CLNSRC | |
| CLNACC | RCV000203326.1, |
