rs398123513
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs398123513(C;T) |
| Make rs398123513(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 19 |
| Position | 41422739 |
| Gene | BCKDHA |
| is a | snp |
| is | mentioned by |
| dbSNP | rs398123513 |
| dbSNP (classic) | rs398123513 |
| ClinGen | rs398123513 |
| ebi | rs398123513 |
| HLI | rs398123513 |
| Exac | rs398123513 |
| Gnomad | rs398123513 |
| Varsome | rs398123513 |
| LitVar | rs398123513 |
| Map | rs398123513 |
| PheGenI | rs398123513 |
| Biobank | rs398123513 |
| 1000 genomes | rs398123513 |
| hgdp | rs398123513 |
| ensembl | rs398123513 |
| geneview | rs398123513 |
| scholar | rs398123513 |
| rs398123513 | |
| pharmgkb | rs398123513 |
| gwascentral | rs398123513 |
| openSNP | rs398123513 |
| 23andMe | rs398123513 |
| SNPshot | rs398123513 |
| SNPdbe | rs398123513 |
| MSV3d | rs398123513 |
| GWAS Ctlg | rs398123513 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs398123513(T;T) |
| Alt | rs398123513(T;T) |
| Reference | Rs398123513(C;C) |
| Significance | Pathogenic |
| Disease | not provided Maple syrup urine disease |
| Variation | info |
| Gene | BCKDHA |
| CLNDBN | not provided Maple syrup urine disease |
| Reversed | 0 |
| HGVS | NC_000019.9:g.41928644C>T |
| CLNSRC | ClinVar Emory University |
| CLNACC | RCV000079265.3, RCV000179777.1, |
