rs121434454
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| (G;G) | 3 | mitochondrial myopathy; severe exercise intolerance |
| Make rs121434454(A;G) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | MT |
| Position | 7526 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs121434454 |
| dbSNP (classic) | rs121434454 |
| ClinGen | rs121434454 |
| ebi | rs121434454 |
| HLI | rs121434454 |
| Exac | rs121434454 |
| Gnomad | rs121434454 |
| Varsome | rs121434454 |
| LitVar | rs121434454 |
| Map | rs121434454 |
| PheGenI | rs121434454 |
| Biobank | rs121434454 |
| 1000 genomes | rs121434454 |
| hgdp | rs121434454 |
| ensembl | rs121434454 |
| geneview | rs121434454 |
| scholar | rs121434454 |
| rs121434454 | |
| pharmgkb | rs121434454 |
| gwascentral | rs121434454 |
| openSNP | rs121434454 |
| 23andMe | rs121434454 |
| SNPshot | rs121434454 |
| SNPdbe | rs121434454 |
| MSV3d | rs121434454 |
| GWAS Ctlg | rs121434454 |
| Max Magnitude | 3 |
| ClinVar | |
|---|---|
| Risk | Rs121434454(G;G) |
| Alt | Rs121434454(G;G) |
| Reference | Rs121434454(A;A) |
| Significance | Pathogenic |
| Disease | Mitochondrial myopathy |
| Variation | info |
| Gene | |
| CLNDBN | Mitochondrial myopathy, isolated |
| Reversed | 0 |
| HGVS | NC_012920.1:m.7526A>G |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000010244.2, |
