rs186547381
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs186547381(C;T) |
| Make rs186547381(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 31190398 |
| Gene | FUS |
| is a | snp |
| is | mentioned by |
| dbSNP | rs186547381 |
| dbSNP (classic) | rs186547381 |
| ClinGen | rs186547381 |
| ebi | rs186547381 |
| HLI | rs186547381 |
| Exac | rs186547381 |
| Gnomad | rs186547381 |
| Varsome | rs186547381 |
| LitVar | rs186547381 |
| Map | rs186547381 |
| PheGenI | rs186547381 |
| Biobank | rs186547381 |
| 1000 genomes | rs186547381 |
| hgdp | rs186547381 |
| ensembl | rs186547381 |
| geneview | rs186547381 |
| scholar | rs186547381 |
| rs186547381 | |
| pharmgkb | rs186547381 |
| gwascentral | rs186547381 |
| openSNP | rs186547381 |
| 23andMe | rs186547381 |
| SNPshot | rs186547381 |
| SNPdbe | rs186547381 |
| MSV3d | rs186547381 |
| GWAS Ctlg | rs186547381 |
| GMAF | 0.0009183 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs186547381(T;T) |
| Alt | rs186547381(T;T) |
| Reference | Rs186547381(C;C) |
| Significance | Pathogenic |
| Disease | Tremor |
| Variation | info |
| Gene | FUS |
| CLNDBN | Tremor, hereditary essential, 4 |
| Reversed | 0 |
| HGVS | NC_000016.9:g.31201719C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000030718.24, |
