rs146440690
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs146440690(G;T) |
| Make rs146440690(T;T) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 1 |
| Position | 234374366 |
| Gene | COA6, LOC101927765 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs146440690 |
| dbSNP (classic) | rs146440690 |
| ClinGen | rs146440690 |
| ebi | rs146440690 |
| HLI | rs146440690 |
| Exac | rs146440690 |
| Gnomad | rs146440690 |
| Varsome | rs146440690 |
| LitVar | rs146440690 |
| Map | rs146440690 |
| PheGenI | rs146440690 |
| Biobank | rs146440690 |
| 1000 genomes | rs146440690 |
| hgdp | rs146440690 |
| ensembl | rs146440690 |
| geneview | rs146440690 |
| scholar | rs146440690 |
| rs146440690 | |
| pharmgkb | rs146440690 |
| gwascentral | rs146440690 |
| openSNP | rs146440690 |
| 23andMe | rs146440690 |
| SNPshot | rs146440690 |
| SNPdbe | rs146440690 |
| MSV3d | rs146440690 |
| GWAS Ctlg | rs146440690 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs146440690(T;T) |
| Alt | rs146440690(T;T) |
| Reference | Rs146440690(G;G) |
| Significance | Pathogenic |
| Disease | Cardioencephalomyopathy |
| Variation | info |
| Gene | COA6 LOC101927765 |
| CLNDBN | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 |
| Reversed | 0 |
| HGVS | NC_000001.10:g.234510112G>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000133544.5, |
