rs782007828
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (CT;CT) | 0 | common in clinvar |
| Make rs782007828(-;-) |
| Make rs782007828(-;CT) |
| Reference | GRCh38.p7 38.3/149 |
| Chromosome | 9 |
| Position | 133352139 |
| Gene | SURF1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs782007828 |
| dbSNP (classic) | rs782007828 |
| ClinGen | rs782007828 |
| ebi | rs782007828 |
| HLI | rs782007828 |
| Exac | rs782007828 |
| Gnomad | rs782007828 |
| Varsome | rs782007828 |
| LitVar | rs782007828 |
| Map | rs782007828 |
| PheGenI | rs782007828 |
| Biobank | rs782007828 |
| 1000 genomes | rs782007828 |
| hgdp | rs782007828 |
| ensembl | rs782007828 |
| geneview | rs782007828 |
| scholar | rs782007828 |
| rs782007828 | |
| pharmgkb | rs782007828 |
| gwascentral | rs782007828 |
| openSNP | rs782007828 |
| 23andMe | rs782007828 |
| SNPshot | rs782007828 |
| SNPdbe | rs782007828 |
| MSV3d | rs782007828 |
| GWAS Ctlg | rs782007828 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs782007828(-;-) |
| Alt | rs782007828(-;-) |
| Reference | Rs782007828(CT;CT) |
| Significance | Probable-Pathogenic |
| Disease | Leigh syndrome |
| Variation | info |
| Gene | SURF1 |
| CLNDBN | Leigh syndrome |
| Reversed | 0 |
| HGVS | NC_000009.11:g.136218994_136218995delCT |
| CLNSRC | Illumina |
| CLNACC | RCV000312508.1, |
