rs587776599
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (-;G) | 3 | Carrier of an arterial tortuosity syndrome mutation |
| (G;G) | 0 | common in clinvar |
| Make rs587776599(-;-) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 20 |
| Position | 46725997 |
| Gene | SLC2A10 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs587776599 |
| dbSNP (classic) | rs587776599 |
| ClinGen | rs587776599 |
| ebi | rs587776599 |
| HLI | rs587776599 |
| Exac | rs587776599 |
| Gnomad | rs587776599 |
| Varsome | rs587776599 |
| LitVar | rs587776599 |
| Map | rs587776599 |
| PheGenI | rs587776599 |
| Biobank | rs587776599 |
| 1000 genomes | rs587776599 |
| hgdp | rs587776599 |
| ensembl | rs587776599 |
| geneview | rs587776599 |
| scholar | rs587776599 |
| rs587776599 | |
| pharmgkb | rs587776599 |
| gwascentral | rs587776599 |
| openSNP | rs587776599 |
| 23andMe | rs587776599 |
| SNPshot | rs587776599 |
| SNPdbe | rs587776599 |
| MSV3d | rs587776599 |
| GWAS Ctlg | rs587776599 |
| Max Magnitude | 3 |
| ClinVar | |
|---|---|
| Risk | rs587776599(-;-) |
| Alt | rs587776599(-;-) |
| Reference | Rs587776599(G;G) |
| Significance | Pathogenic |
| Disease | Arterial tortuosity syndrome |
| Variation | info |
| Gene | SLC2A10 |
| CLNDBN | Arterial tortuosity syndrome |
| Reversed | 0 |
| HGVS | NC_000020.10:g.45354636delG |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000004848.4, |
