rs144885874
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs144885874(C;T) |
| Make rs144885874(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 2 |
| Position | 218661845 |
| Gene | BCS1L |
| is a | snp |
| is | mentioned by |
| dbSNP | rs144885874 |
| dbSNP (classic) | rs144885874 |
| ClinGen | rs144885874 |
| ebi | rs144885874 |
| HLI | rs144885874 |
| Exac | rs144885874 |
| Gnomad | rs144885874 |
| Varsome | rs144885874 |
| LitVar | rs144885874 |
| Map | rs144885874 |
| PheGenI | rs144885874 |
| Biobank | rs144885874 |
| 1000 genomes | rs144885874 |
| hgdp | rs144885874 |
| ensembl | rs144885874 |
| geneview | rs144885874 |
| scholar | rs144885874 |
| rs144885874 | |
| pharmgkb | rs144885874 |
| gwascentral | rs144885874 |
| openSNP | rs144885874 |
| 23andMe | rs144885874 |
| SNPshot | rs144885874 |
| SNPdbe | rs144885874 |
| MSV3d | rs144885874 |
| GWAS Ctlg | rs144885874 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs144885874(T;T) |
| Alt | rs144885874(T;T) |
| Reference | Rs144885874(C;C) |
| Significance | Other |
| Disease | Mitochondrial complex III deficiency |
| Variation | info |
| Gene | BCS1L |
| CLNDBN | Mitochondrial complex III deficiency |
| Reversed | 0 |
| HGVS | NC_000002.11:g.219526568C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000006550.4, |
