rs281865498
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 3 | Carrier of a mitochondrial depletion syndrome mutation |
| (T;T) | 5 | TK-2 related mitochondrial depletion syndrome (myopathic) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 66512006 |
| Gene | TK2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs281865498 |
| dbSNP (classic) | rs281865498 |
| ClinGen | rs281865498 |
| ebi | rs281865498 |
| HLI | rs281865498 |
| Exac | rs281865498 |
| Gnomad | rs281865498 |
| Varsome | rs281865498 |
| LitVar | rs281865498 |
| Map | rs281865498 |
| PheGenI | rs281865498 |
| Biobank | rs281865498 |
| 1000 genomes | rs281865498 |
| hgdp | rs281865498 |
| ensembl | rs281865498 |
| geneview | rs281865498 |
| scholar | rs281865498 |
| rs281865498 | |
| pharmgkb | rs281865498 |
| gwascentral | rs281865498 |
| openSNP | rs281865498 |
| 23andMe | rs281865498 |
| SNPshot | rs281865498 |
| SNPdbe | rs281865498 |
| MSV3d | rs281865498 |
| GWAS Ctlg | rs281865498 |
| Max Magnitude | 5 |
Reported as pathogenic in ClinVar for TK2 related mitochondrial depletion syndrome (myopathic form), a recessively inherited condition
| ClinVar | |
|---|---|
| Risk | Rs281865498(T;T) |
| Alt | Rs281865498(T;T) |
| Reference | Rs281865498(C;C) |
| Significance | Pathogenic |
| Disease | Mitochondrial DNA depletion syndrome 2 |
| Variation | info |
| Gene | TK2 |
| CLNDBN | Mitochondrial DNA depletion syndrome 2 |
| Reversed | 1 |
| HGVS | NC_000016.9:g.66545909G>A |
| CLNSRC | ClinVar GeneReviews |
| CLNACC | RCV000032256.1, |
