rs886041082
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Chromosome | 4 |
| Position | 185145863 |
| Gene | SLC25A4 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs886041082 |
| dbSNP (classic) | rs886041082 |
| ClinGen | rs886041082 |
| ebi | rs886041082 |
| HLI | rs886041082 |
| Exac | rs886041082 |
| Gnomad | rs886041082 |
| Varsome | rs886041082 |
| LitVar | rs886041082 |
| Map | rs886041082 |
| PheGenI | rs886041082 |
| Biobank | rs886041082 |
| 1000 genomes | rs886041082 |
| hgdp | rs886041082 |
| ensembl | rs886041082 |
| geneview | rs886041082 |
| scholar | rs886041082 |
| rs886041082 | |
| pharmgkb | rs886041082 |
| gwascentral | rs886041082 |
| openSNP | rs886041082 |
| 23andMe | rs886041082 |
| SNPshot | rs886041082 |
| SNPdbe | rs886041082 |
| MSV3d | rs886041082 |
| GWAS Ctlg | rs886041082 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs886041082(G;G) |
| Alt | rs886041082(G;G) |
| Reference | Rs886041082(C;C) |
| Significance | Pathogenic |
| Disease | Mitochondrial DNA depletion syndrome 12a (cardiomyopathic type) Mitochondrial diseases |
| Variation | info |
| Gene | SLC25A4 |
| CLNDBN | Mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant Mitochondrial diseases |
| Reversed | 0 |
| HGVS | NC_000004.11:g.186067017C>G |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000258874.1, RCV000491457.1, |
