rs786200950
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs786200950(A;A) |
| Make rs786200950(A;G) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | MT |
| Position | 5631 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs786200950 |
| dbSNP (classic) | rs786200950 |
| ClinGen | rs786200950 |
| ebi | rs786200950 |
| HLI | rs786200950 |
| Exac | rs786200950 |
| Gnomad | rs786200950 |
| Varsome | rs786200950 |
| LitVar | rs786200950 |
| Map | rs786200950 |
| PheGenI | rs786200950 |
| Biobank | rs786200950 |
| 1000 genomes | rs786200950 |
| hgdp | rs786200950 |
| ensembl | rs786200950 |
| geneview | rs786200950 |
| scholar | rs786200950 |
| rs786200950 | |
| pharmgkb | rs786200950 |
| gwascentral | rs786200950 |
| openSNP | rs786200950 |
| 23andMe | rs786200950 |
| SNPshot | rs786200950 |
| SNPdbe | rs786200950 |
| MSV3d | rs786200950 |
| GWAS Ctlg | rs786200950 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs786200950(A;A) |
| Alt | rs786200950(A;A) |
| Reference | Rs786200950(G;G) |
| Significance | Pathogenic |
| Disease | Mitochondrial myopathy |
| Variation | info |
| Gene | |
| CLNDBN | Mitochondrial myopathy |
| Reversed | 0 |
| HGVS | NC_012920.1:m.5631G>A |
| CLNSRC | |
| CLNACC | RCV000169780.1, |
