rs207459999
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs207459999(A;A) |
| Make rs207459999(A;G) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | MT |
| Position | 15242 |
| Gene | CYTB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs207459999 |
| dbSNP (classic) | rs207459999 |
| ClinGen | rs207459999 |
| ebi | rs207459999 |
| HLI | rs207459999 |
| Exac | rs207459999 |
| Gnomad | rs207459999 |
| Varsome | rs207459999 |
| LitVar | rs207459999 |
| Map | rs207459999 |
| PheGenI | rs207459999 |
| Biobank | rs207459999 |
| 1000 genomes | rs207459999 |
| hgdp | rs207459999 |
| ensembl | rs207459999 |
| geneview | rs207459999 |
| scholar | rs207459999 |
| rs207459999 | |
| pharmgkb | rs207459999 |
| gwascentral | rs207459999 |
| openSNP | rs207459999 |
| 23andMe | rs207459999 |
| SNPshot | rs207459999 |
| SNPdbe | rs207459999 |
| MSV3d | rs207459999 |
| GWAS Ctlg | rs207459999 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs207459999(A;A) |
| Alt | rs207459999(A;A) |
| Reference | Rs207459999(G;G) |
| Significance | Pathogenic |
| Disease | Mitochondrial encephalomyopathy |
| Variation | info |
| Gene | CYTB |
| CLNDBN | Mitochondrial encephalomyopathy |
| Reversed | 0 |
| HGVS | NC_012920.1:m.15242G>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000010318.2, |
