rs104894003
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs104894003(C;T) |
| Make rs104894003(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 7 |
| Position | 5528536 |
| Gene | ACTB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs104894003 |
| dbSNP (classic) | rs104894003 |
| ClinGen | rs104894003 |
| ebi | rs104894003 |
| HLI | rs104894003 |
| Exac | rs104894003 |
| Gnomad | rs104894003 |
| Varsome | rs104894003 |
| LitVar | rs104894003 |
| Map | rs104894003 |
| PheGenI | rs104894003 |
| Biobank | rs104894003 |
| 1000 genomes | rs104894003 |
| hgdp | rs104894003 |
| ensembl | rs104894003 |
| geneview | rs104894003 |
| scholar | rs104894003 |
| rs104894003 | |
| pharmgkb | rs104894003 |
| gwascentral | rs104894003 |
| openSNP | rs104894003 |
| 23andMe | rs104894003 |
| SNPshot | rs104894003 |
| SNPdbe | rs104894003 |
| MSV3d | rs104894003 |
| GWAS Ctlg | rs104894003 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs104894003(T;T) |
| Alt | rs104894003(T;T) |
| Reference | Rs104894003(C;C) |
| Significance | Pathogenic |
| Disease | Juvenile-onset dystonia |
| Variation | info |
| Gene | ACTB |
| CLNDBN | Juvenile-onset dystonia |
| Reversed | 1 |
| HGVS | NC_000007.13:g.5568167G>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000019937.28, |
