rs767517186
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs767517186(C;G) |
| Make rs767517186(G;G) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 2 |
| Position | 237334890 |
| Gene | COL6A3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs767517186 |
| dbSNP (classic) | rs767517186 |
| ClinGen | rs767517186 |
| ebi | rs767517186 |
| HLI | rs767517186 |
| Exac | rs767517186 |
| Gnomad | rs767517186 |
| Varsome | rs767517186 |
| LitVar | rs767517186 |
| Map | rs767517186 |
| PheGenI | rs767517186 |
| Biobank | rs767517186 |
| 1000 genomes | rs767517186 |
| hgdp | rs767517186 |
| ensembl | rs767517186 |
| geneview | rs767517186 |
| scholar | rs767517186 |
| rs767517186 | |
| pharmgkb | rs767517186 |
| gwascentral | rs767517186 |
| openSNP | rs767517186 |
| 23andMe | rs767517186 |
| SNPshot | rs767517186 |
| SNPdbe | rs767517186 |
| MSV3d | rs767517186 |
| GWAS Ctlg | rs767517186 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs767517186(G;G) |
| Alt | rs767517186(G;G) |
| Reference | Rs767517186(C;C) |
| Significance | Pathogenic |
| Disease | Dystonia 27 |
| Variation | info |
| Gene | COL6A3 |
| CLNDBN | Dystonia 27 |
| Reversed | 0 |
| HGVS | NC_000002.11:g.238243533C>G |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000172851.2, |
