rs770277446
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs770277446(A;T) |
| Make rs770277446(T;T) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 22 |
| Position | 50526244 |
| Gene | SCO2, TYMP |
| is a | snp |
| is | mentioned by |
| dbSNP | rs770277446 |
| dbSNP (classic) | rs770277446 |
| ClinGen | rs770277446 |
| ebi | rs770277446 |
| HLI | rs770277446 |
| Exac | rs770277446 |
| Gnomad | rs770277446 |
| Varsome | rs770277446 |
| LitVar | rs770277446 |
| Map | rs770277446 |
| PheGenI | rs770277446 |
| Biobank | rs770277446 |
| 1000 genomes | rs770277446 |
| hgdp | rs770277446 |
| ensembl | rs770277446 |
| geneview | rs770277446 |
| scholar | rs770277446 |
| rs770277446 | |
| pharmgkb | rs770277446 |
| gwascentral | rs770277446 |
| openSNP | rs770277446 |
| 23andMe | rs770277446 |
| SNPshot | rs770277446 |
| SNPdbe | rs770277446 |
| MSV3d | rs770277446 |
| GWAS Ctlg | rs770277446 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs770277446(G;G) rs770277446(T;T) |
| Alt | rs770277446(G;G) rs770277446(T;T) |
| Reference | Rs770277446(A;A) |
| Significance | Pathogenic |
| Disease | Mitochondrial DNA depletion syndrome 1 (MNGIE type) |
| Variation | info |
| Gene | TYMP SCO2 |
| CLNDBN | Mitochondrial DNA depletion syndrome 1 (MNGIE type) |
| Reversed | 0 |
| HGVS | NC_000022.10:g.50964673A>T |
| CLNSRC | |
| CLNACC | RCV000208672.1, |
