rs147210405
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs147210405(A;A) |
| Make rs147210405(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 31110716 |
| Gene | BCKDK |
| is a | snp |
| is | mentioned by |
| dbSNP | rs147210405 |
| dbSNP (classic) | rs147210405 |
| ClinGen | rs147210405 |
| ebi | rs147210405 |
| HLI | rs147210405 |
| Exac | rs147210405 |
| Gnomad | rs147210405 |
| Varsome | rs147210405 |
| LitVar | rs147210405 |
| Map | rs147210405 |
| PheGenI | rs147210405 |
| Biobank | rs147210405 |
| 1000 genomes | rs147210405 |
| hgdp | rs147210405 |
| ensembl | rs147210405 |
| geneview | rs147210405 |
| scholar | rs147210405 |
| rs147210405 | |
| pharmgkb | rs147210405 |
| gwascentral | rs147210405 |
| openSNP | rs147210405 |
| 23andMe | rs147210405 |
| SNPshot | rs147210405 |
| SNPdbe | rs147210405 |
| MSV3d | rs147210405 |
| GWAS Ctlg | rs147210405 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs147210405(A;A) rs147210405(C;C) |
| Alt | rs147210405(A;A) rs147210405(C;C) |
| Reference | Rs147210405(G;G) |
| Significance | Pathogenic |
| Disease | Branched-chain keto acid dehydrogenase kinase deficiency |
| Variation | info |
| Gene | BCKDK |
| CLNDBN | Branched-chain keto acid dehydrogenase kinase deficiency |
| Reversed | 0 |
| HGVS | NC_000016.9:g.31122037G>C |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000032961.2, |
