rs146349901
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs146349901(C;T) |
| Make rs146349901(T;T) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 2 |
| Position | 72888378 |
| Gene | SPR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs146349901 |
| dbSNP (classic) | rs146349901 |
| ClinGen | rs146349901 |
| ebi | rs146349901 |
| HLI | rs146349901 |
| Exac | rs146349901 |
| Gnomad | rs146349901 |
| Varsome | rs146349901 |
| LitVar | rs146349901 |
| Map | rs146349901 |
| PheGenI | rs146349901 |
| Biobank | rs146349901 |
| 1000 genomes | rs146349901 |
| hgdp | rs146349901 |
| ensembl | rs146349901 |
| geneview | rs146349901 |
| scholar | rs146349901 |
| rs146349901 | |
| pharmgkb | rs146349901 |
| gwascentral | rs146349901 |
| openSNP | rs146349901 |
| 23andMe | rs146349901 |
| SNPshot | rs146349901 |
| SNPdbe | rs146349901 |
| MSV3d | rs146349901 |
| GWAS Ctlg | rs146349901 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs146349901(T;T) |
| Alt | rs146349901(T;T) |
| Reference | Rs146349901(C;C) |
| Significance | Pathogenic |
| Disease | not provided Dystonia |
| Variation | info |
| Gene | SPR |
| CLNDBN | not provided Dystonia, dopa-responsive Dystonia |
| Reversed | 0 |
| HGVS | NC_000002.11:g.73115507C>G; NC_000002.11:g.73115507C>T |
| CLNSRC | |
| CLNACC | RCV000494407.1, RCV000297483.1, RCV000461424.1, |
