rs892141220
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 22 |
| Position | 50526467 |
| Gene | SCO2, TYMP |
| is a | snp |
| is | mentioned by |
| dbSNP | rs892141220 |
| dbSNP (classic) | rs892141220 |
| ClinGen | rs892141220 |
| ebi | rs892141220 |
| HLI | rs892141220 |
| Exac | rs892141220 |
| Gnomad | rs892141220 |
| Varsome | rs892141220 |
| LitVar | rs892141220 |
| Map | rs892141220 |
| PheGenI | rs892141220 |
| Biobank | rs892141220 |
| 1000 genomes | rs892141220 |
| hgdp | rs892141220 |
| ensembl | rs892141220 |
| geneview | rs892141220 |
| scholar | rs892141220 |
| rs892141220 | |
| pharmgkb | rs892141220 |
| gwascentral | rs892141220 |
| openSNP | rs892141220 |
| 23andMe | rs892141220 |
| SNPshot | rs892141220 |
| SNPdbe | rs892141220 |
| MSV3d | rs892141220 |
| GWAS Ctlg | rs892141220 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs892141220(G;G) |
| Alt | rs892141220(G;G) |
| Reference | Rs892141220(A;A) |
| Significance | Pathogenic |
| Disease | Mitochondrial DNA depletion syndrome 1 (MNGIE type) |
| Variation | info |
| Gene | SCO2 TYMP |
| CLNDBN | Mitochondrial DNA depletion syndrome 1 (MNGIE type) |
| Reversed | 0 |
| HGVS | NC_000022.10:g.50964896A>G |
| CLNSRC | |
| CLNACC | RCV000208646.1, |
