rs118192099
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs118192099(C;C) |
| Make rs118192099(C;T) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | MT |
| Position | 8356 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs118192099 |
| dbSNP (classic) | rs118192099 |
| ClinGen | rs118192099 |
| ebi | rs118192099 |
| HLI | rs118192099 |
| Exac | rs118192099 |
| Gnomad | rs118192099 |
| Varsome | rs118192099 |
| LitVar | rs118192099 |
| Map | rs118192099 |
| PheGenI | rs118192099 |
| Biobank | rs118192099 |
| 1000 genomes | rs118192099 |
| hgdp | rs118192099 |
| ensembl | rs118192099 |
| geneview | rs118192099 |
| scholar | rs118192099 |
| rs118192099 | |
| pharmgkb | rs118192099 |
| gwascentral | rs118192099 |
| openSNP | rs118192099 |
| 23andMe | rs118192099 |
| SNPshot | rs118192099 |
| SNPdbe | rs118192099 |
| MSV3d | rs118192099 |
| GWAS Ctlg | rs118192099 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs118192099(C;C) |
| Alt | rs118192099(C;C) |
| Reference | Rs118192099(T;T) |
| Significance | Pathogenic |
| Disease | Myoclonus with epilepsy with ragged red fibers MERRF/MELAS overlap syndrome |
| Variation | info |
| Gene | |
| CLNDBN | Myoclonus with epilepsy with ragged red fibers MERRF/MELAS overlap syndrome |
| Reversed | 0 |
| HGVS | NC_012920.1:m.8356T>C |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000010195.5, RCV000010196.5, |
