rs397509359
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 3 | Carrier of a mutation for an X-linked dystonia, type 3 |
| (T;T) | 7 | Dystonia 3, X-linked |
| Reference | GRCh38 38.1/141 |
| Chromosome | X |
| Position | 71529785 |
| Gene | TAF1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs397509359 |
| dbSNP (classic) | rs397509359 |
| ClinGen | rs397509359 |
| ebi | rs397509359 |
| HLI | rs397509359 |
| Exac | rs397509359 |
| Gnomad | rs397509359 |
| Varsome | rs397509359 |
| LitVar | rs397509359 |
| Map | rs397509359 |
| PheGenI | rs397509359 |
| Biobank | rs397509359 |
| 1000 genomes | rs397509359 |
| hgdp | rs397509359 |
| ensembl | rs397509359 |
| geneview | rs397509359 |
| scholar | rs397509359 |
| rs397509359 | |
| pharmgkb | rs397509359 |
| gwascentral | rs397509359 |
| openSNP | rs397509359 |
| 23andMe | rs397509359 |
| SNPshot | rs397509359 |
| SNPdbe | rs397509359 |
| MSV3d | rs397509359 |
| GWAS Ctlg | rs397509359 |
| Max Magnitude | 7 |
n.5894C>T
| ClinVar | |
|---|---|
| Risk | Rs397509359(T;T) |
| Alt | Rs397509359(T;T) |
| Reference | Rs397509359(C;C) |
| Significance | Pathogenic |
| Disease | Dystonia 3 |
| Variation | info |
| Gene | TAF1 |
| CLNDBN | Dystonia 3, torsion, X-linked |
| Reversed | 0 |
| HGVS | NC_000023.10:g.70749635C>T |
| CLNSRC | ClinVar GeneReviews |
| CLNACC | RCV000020067.1, |
