rs782316919
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (AG;AG) | 0 | common in clinvar |
| Make rs782316919(-;-) |
| Make rs782316919(-;AG) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 9 |
| Position | 133351970 |
| Gene | SURF1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs782316919 |
| dbSNP (classic) | rs782316919 |
| ClinGen | rs782316919 |
| ebi | rs782316919 |
| HLI | rs782316919 |
| Exac | rs782316919 |
| Gnomad | rs782316919 |
| Varsome | rs782316919 |
| LitVar | rs782316919 |
| Map | rs782316919 |
| PheGenI | rs782316919 |
| Biobank | rs782316919 |
| 1000 genomes | rs782316919 |
| hgdp | rs782316919 |
| ensembl | rs782316919 |
| geneview | rs782316919 |
| scholar | rs782316919 |
| rs782316919 | |
| pharmgkb | rs782316919 |
| gwascentral | rs782316919 |
| openSNP | rs782316919 |
| 23andMe | rs782316919 |
| SNPshot | rs782316919 |
| SNPdbe | rs782316919 |
| MSV3d | rs782316919 |
| GWAS Ctlg | rs782316919 |
| Max Magnitude | 0 |
Associated with Leigh syndrome according to OMIM
| ClinVar | |
|---|---|
| Risk | rs782316919(-;-) |
| Alt | rs782316919(-;-) |
| Reference | Rs782316919(AG;AG) |
| Significance | Pathogenic |
| Disease | Congenital myasthenic syndrome not provided Leigh syndrome |
| Variation | info |
| Gene | SURF1 |
| CLNDBN | Congenital myasthenic syndrome, acetazolamide-responsive not provided Leigh syndrome |
| Reversed | 0 |
| HGVS | NC_000009.11:g.136218825_136218826delAG |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000013608.22, RCV000197896.2, RCV000331329.1, |
