rs200911567
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs200911567(C;C) |
| Make rs200911567(C;T) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | MT |
| Position | 11984 |
| Gene | ND4 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs200911567 |
| dbSNP (classic) | rs200911567 |
| ClinGen | rs200911567 |
| ebi | rs200911567 |
| HLI | rs200911567 |
| Exac | rs200911567 |
| Gnomad | rs200911567 |
| Varsome | rs200911567 |
| LitVar | rs200911567 |
| Map | rs200911567 |
| PheGenI | rs200911567 |
| Biobank | rs200911567 |
| 1000 genomes | rs200911567 |
| hgdp | rs200911567 |
| ensembl | rs200911567 |
| geneview | rs200911567 |
| scholar | rs200911567 |
| rs200911567 | |
| pharmgkb | rs200911567 |
| gwascentral | rs200911567 |
| openSNP | rs200911567 |
| 23andMe | rs200911567 |
| SNPshot | rs200911567 |
| SNPdbe | rs200911567 |
| MSV3d | rs200911567 |
| GWAS Ctlg | rs200911567 |
| Merged from | Rs587776439 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs200911567(C;C) |
| Alt | rs200911567(C;C) |
| Reference | Rs200911567(T;T) |
| Significance | Pathogenic |
| Disease | Leigh syndrome |
| Variation | info |
| Gene | ND4 |
| CLNDBN | Leigh syndrome |
| Reversed | 0 |
| HGVS | NC_012920.1:m.11984T>C |
| CLNSRC | |
| CLNACC | RCV000144014.2, |
