rs748754134
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs748754134(C;T) |
| Make rs748754134(T;T) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 11 |
| Position | 68033210 |
| Gene | MIR4691, MIR7113, NDUFS8 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs748754134 |
| dbSNP (classic) | rs748754134 |
| ClinGen | rs748754134 |
| ebi | rs748754134 |
| HLI | rs748754134 |
| Exac | rs748754134 |
| Gnomad | rs748754134 |
| Varsome | rs748754134 |
| LitVar | rs748754134 |
| Map | rs748754134 |
| PheGenI | rs748754134 |
| Biobank | rs748754134 |
| 1000 genomes | rs748754134 |
| hgdp | rs748754134 |
| ensembl | rs748754134 |
| geneview | rs748754134 |
| scholar | rs748754134 |
| rs748754134 | |
| pharmgkb | rs748754134 |
| gwascentral | rs748754134 |
| openSNP | rs748754134 |
| 23andMe | rs748754134 |
| SNPshot | rs748754134 |
| SNPdbe | rs748754134 |
| MSV3d | rs748754134 |
| GWAS Ctlg | rs748754134 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs748754134(T;T) |
| Alt | rs748754134(T;T) |
| Reference | Rs748754134(C;C) |
| Significance | Probable-Pathogenic |
| Disease | Leigh syndrome Mitochondrial complex I deficiency not provided |
| Variation | info |
| Gene | MIR7113 MIR4691 NDUFS8 |
| CLNDBN | Leigh syndrome Mitochondrial complex I deficiency not provided |
| Reversed | 0 |
| HGVS | NC_000011.9:g.67800677C>T |
| CLNSRC | |
| CLNACC | RCV000307867.1, RCV000344135.1, RCV000490220.1, |
