rs1064792890
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (GACGGCCCCGCGCTCAGCGG;GACGGCCCCGCGCTCAGCGG) | 0 | common in clinvar |
| Chromosome | 22 |
| Position | 50525873 |
| Gene | SCO2, TYMP |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1064792890 |
| dbSNP (classic) | rs1064792890 |
| ClinGen | rs1064792890 |
| ebi | rs1064792890 |
| HLI | rs1064792890 |
| Exac | rs1064792890 |
| Gnomad | rs1064792890 |
| Varsome | rs1064792890 |
| LitVar | rs1064792890 |
| Map | rs1064792890 |
| PheGenI | rs1064792890 |
| Biobank | rs1064792890 |
| 1000 genomes | rs1064792890 |
| hgdp | rs1064792890 |
| ensembl | rs1064792890 |
| geneview | rs1064792890 |
| scholar | rs1064792890 |
| rs1064792890 | |
| pharmgkb | rs1064792890 |
| gwascentral | rs1064792890 |
| openSNP | rs1064792890 |
| 23andMe | rs1064792890 |
| SNPshot | rs1064792890 |
| SNPdbe | rs1064792890 |
| MSV3d | rs1064792890 |
| GWAS Ctlg | rs1064792890 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs1064792890(-;-) |
| Alt | rs1064792890(-;-) |
| Reference | Rs1064792890(GACGGCCCCGCGCTCAGCGG;GACGGCCCCGCGCTCAGCGG) |
| Significance | Pathogenic |
| Disease | Mitochondrial DNA depletion syndrome 1 (MNGIE type) |
| Variation | info |
| Gene | SCO2 TYMP |
| CLNDBN | Mitochondrial DNA depletion syndrome 1 (MNGIE type) |
| Reversed | 1 |
| HGVS | NC_000022.10:g.50964302_50964321del20 |
| CLNSRC | |
| CLNACC | RCV000208691.1, |
