rs199476132
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs199476132(C;C) |
| Make rs199476132(C;T) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | MT |
| Position | 5728 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs199476132 |
| dbSNP (classic) | rs199476132 |
| ClinGen | rs199476132 |
| ebi | rs199476132 |
| HLI | rs199476132 |
| Exac | rs199476132 |
| Gnomad | rs199476132 |
| Varsome | rs199476132 |
| LitVar | rs199476132 |
| Map | rs199476132 |
| PheGenI | rs199476132 |
| Biobank | rs199476132 |
| 1000 genomes | rs199476132 |
| hgdp | rs199476132 |
| ensembl | rs199476132 |
| geneview | rs199476132 |
| scholar | rs199476132 |
| rs199476132 | |
| pharmgkb | rs199476132 |
| gwascentral | rs199476132 |
| openSNP | rs199476132 |
| 23andMe | rs199476132 |
| SNPshot | rs199476132 |
| SNPdbe | rs199476132 |
| MSV3d | rs199476132 |
| GWAS Ctlg | rs199476132 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs199476132(C;C) |
| Alt | rs199476132(C;C) |
| Reference | Rs199476132(T;T) |
| Significance | Pathogenic |
| Disease | Mitochondrial complex I deficiency Cytochrome-c oxidase deficiency |
| Variation | info |
| Gene | |
| CLNDBN | Mitochondrial complex I deficiency Cytochrome-c oxidase deficiency |
| Reversed | 0 |
| HGVS | NC_012920.1:m.5728T>C |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000010247.2, RCV000010248.2, |
