rs149977726
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs149977726(C;C) |
| Make rs149977726(C;T) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 22 |
| Position | 50527265 |
| Gene | SCO2, TYMP |
| is a | snp |
| is | mentioned by |
| dbSNP | rs149977726 |
| dbSNP (classic) | rs149977726 |
| ClinGen | rs149977726 |
| ebi | rs149977726 |
| HLI | rs149977726 |
| Exac | rs149977726 |
| Gnomad | rs149977726 |
| Varsome | rs149977726 |
| LitVar | rs149977726 |
| Map | rs149977726 |
| PheGenI | rs149977726 |
| Biobank | rs149977726 |
| 1000 genomes | rs149977726 |
| hgdp | rs149977726 |
| ensembl | rs149977726 |
| geneview | rs149977726 |
| scholar | rs149977726 |
| rs149977726 | |
| pharmgkb | rs149977726 |
| gwascentral | rs149977726 |
| openSNP | rs149977726 |
| 23andMe | rs149977726 |
| SNPshot | rs149977726 |
| SNPdbe | rs149977726 |
| MSV3d | rs149977726 |
| GWAS Ctlg | rs149977726 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs149977726(C;C) |
| Alt | rs149977726(C;C) |
| Reference | Rs149977726(T;T) |
| 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.50965694T>C |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000018136.30, |
