rs199648872
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs199648872(G;T) |
| Make rs199648872(T;T) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 2 |
| Position | 239961189 |
| Gene | NDUFA10 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs199648872 |
| dbSNP (classic) | rs199648872 |
| ClinGen | rs199648872 |
| ebi | rs199648872 |
| HLI | rs199648872 |
| Exac | rs199648872 |
| Gnomad | rs199648872 |
| Varsome | rs199648872 |
| LitVar | rs199648872 |
| Map | rs199648872 |
| PheGenI | rs199648872 |
| Biobank | rs199648872 |
| 1000 genomes | rs199648872 |
| hgdp | rs199648872 |
| ensembl | rs199648872 |
| geneview | rs199648872 |
| scholar | rs199648872 |
| rs199648872 | |
| pharmgkb | rs199648872 |
| gwascentral | rs199648872 |
| openSNP | rs199648872 |
| 23andMe | rs199648872 |
| SNPshot | rs199648872 |
| SNPdbe | rs199648872 |
| MSV3d | rs199648872 |
| GWAS Ctlg | rs199648872 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs199648872(C;C) rs199648872(T;T) |
| Alt | rs199648872(C;C) rs199648872(T;T) |
| Reference | Rs199648872(G;G) |
| Significance | Probable-Pathogenic |
| Disease | not provided Mitochondrial complex I deficiency Leigh syndrome |
| Variation | info |
| Gene | NDUFA10 |
| CLNDBN | not provided Mitochondrial complex I deficiency Leigh syndrome |
| Reversed | 0 |
| HGVS | NC_000002.11:g.240900606G>C |
| CLNSRC | |
| CLNACC | RCV000199808.2, RCV000333603.1, RCV000388170.1, |
