rs864309656
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs864309656(C;T) |
| Make rs864309656(T;T) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 10 |
| Position | 133369905 |
| Gene | ECHS1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs864309656 |
| dbSNP (classic) | rs864309656 |
| ClinGen | rs864309656 |
| ebi | rs864309656 |
| HLI | rs864309656 |
| Exac | rs864309656 |
| Gnomad | rs864309656 |
| Varsome | rs864309656 |
| LitVar | rs864309656 |
| Map | rs864309656 |
| PheGenI | rs864309656 |
| Biobank | rs864309656 |
| 1000 genomes | rs864309656 |
| hgdp | rs864309656 |
| ensembl | rs864309656 |
| geneview | rs864309656 |
| scholar | rs864309656 |
| rs864309656 | |
| pharmgkb | rs864309656 |
| gwascentral | rs864309656 |
| openSNP | rs864309656 |
| 23andMe | rs864309656 |
| SNPshot | rs864309656 |
| SNPdbe | rs864309656 |
| MSV3d | rs864309656 |
| GWAS Ctlg | rs864309656 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs864309656(T;T) |
| Alt | rs864309656(T;T) |
| Reference | Rs864309656(C;C) |
| Significance | Pathogenic |
| Disease | Mitochondrial short-chain enoyl-coa hydratase 1 deficiency |
| Variation | info |
| Gene | ECHS1 |
| CLNDBN | Mitochondrial short-chain enoyl-coa hydratase 1 deficiency |
| Reversed | 1 |
| HGVS | NC_000010.10:g.135183409G>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000203246.1, |
