rs770816416
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs770816416(A;A) |
| Make rs770816416(A;G) |
| Reference | GRCh38.p7 38.3/149 |
| Chromosome | 4 |
| Position | 185145867 |
| Gene | SLC25A4 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs770816416 |
| dbSNP (classic) | rs770816416 |
| ClinGen | rs770816416 |
| ebi | rs770816416 |
| HLI | rs770816416 |
| Exac | rs770816416 |
| Gnomad | rs770816416 |
| Varsome | rs770816416 |
| LitVar | rs770816416 |
| Map | rs770816416 |
| PheGenI | rs770816416 |
| Biobank | rs770816416 |
| 1000 genomes | rs770816416 |
| hgdp | rs770816416 |
| ensembl | rs770816416 |
| geneview | rs770816416 |
| scholar | rs770816416 |
| rs770816416 | |
| pharmgkb | rs770816416 |
| gwascentral | rs770816416 |
| openSNP | rs770816416 |
| 23andMe | rs770816416 |
| SNPshot | rs770816416 |
| SNPdbe | rs770816416 |
| MSV3d | rs770816416 |
| GWAS Ctlg | rs770816416 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs770816416(A;A) rs770816416(C;C) |
| Alt | rs770816416(A;A) rs770816416(C;C) |
| Reference | Rs770816416(G;G) |
| Significance | Pathogenic |
| Disease | Mitochondrial DNA depletion syndrome 12b (cardiomyopathic type) |
| Variation | info |
| Gene | SLC25A4 |
| CLNDBN | Mitochondrial DNA depletion syndrome 12b (cardiomyopathic type), autosomal recessive |
| Reversed | 0 |
| HGVS | NC_000004.11:g.186067021G>C |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000258878.1, |
