rs587780326
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs587780326(A;A) |
| Make rs587780326(A;G) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 10 |
| Position | 100245798 |
| Gene | CWF19L1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs587780326 |
| dbSNP (classic) | rs587780326 |
| ClinGen | rs587780326 |
| ebi | rs587780326 |
| HLI | rs587780326 |
| Exac | rs587780326 |
| Gnomad | rs587780326 |
| Varsome | rs587780326 |
| LitVar | rs587780326 |
| Map | rs587780326 |
| PheGenI | rs587780326 |
| Biobank | rs587780326 |
| 1000 genomes | rs587780326 |
| hgdp | rs587780326 |
| ensembl | rs587780326 |
| geneview | rs587780326 |
| scholar | rs587780326 |
| rs587780326 | |
| pharmgkb | rs587780326 |
| gwascentral | rs587780326 |
| openSNP | rs587780326 |
| 23andMe | rs587780326 |
| SNPshot | rs587780326 |
| SNPdbe | rs587780326 |
| MSV3d | rs587780326 |
| GWAS Ctlg | rs587780326 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs587780326(A;A) |
| Alt | rs587780326(A;A) |
| Reference | Rs587780326(G;G) |
| Significance | Pathogenic |
| Disease | not provided Spinocerebellar ataxia |
| Variation | info |
| Gene | CWF19L1 |
| CLNDBN | not provided Spinocerebellar ataxia, autosomal recessive 17 |
| Reversed | 1 |
| HGVS | NC_000010.10:g.102005555C>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000116861.1, RCV000149405.4, |
