rs28384199
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs28384199(C;G) |
| Make rs28384199(G;G) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | MT |
| Position | 11777 |
| Gene | ND4 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs28384199 |
| dbSNP (classic) | rs28384199 |
| ClinGen | rs28384199 |
| ebi | rs28384199 |
| HLI | rs28384199 |
| Exac | rs28384199 |
| Gnomad | rs28384199 |
| Varsome | rs28384199 |
| LitVar | rs28384199 |
| Map | rs28384199 |
| PheGenI | rs28384199 |
| Biobank | rs28384199 |
| 1000 genomes | rs28384199 |
| hgdp | rs28384199 |
| ensembl | rs28384199 |
| geneview | rs28384199 |
| scholar | rs28384199 |
| rs28384199 | |
| pharmgkb | rs28384199 |
| gwascentral | rs28384199 |
| openSNP | rs28384199 |
| 23andMe | rs28384199 |
| SNPshot | rs28384199 |
| SNPdbe | rs28384199 |
| MSV3d | rs28384199 |
| GWAS Ctlg | rs28384199 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs28384199(A;A) rs28384199(G;G) |
| Alt | rs28384199(A;A) rs28384199(G;G) |
| Reference | Rs28384199(C;C) |
| Significance | Pathogenic |
| Disease | Mitochondrial complex I deficiency Leigh syndrome |
| Variation | info |
| Gene | ND4 |
| CLNDBN | Mitochondrial complex I deficiency Leigh syndrome |
| Reversed | 0 |
| HGVS | NC_012920.1:m.11777C>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000010357.5, RCV000144013.2, |
