rs56679084
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs56679084(C;C) |
| Make rs56679084(C;G) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 17 |
| Position | 44913382 |
| Gene | GFAP |
| is a | snp |
| is | mentioned by |
| dbSNP | rs56679084 |
| dbSNP (classic) | rs56679084 |
| ClinGen | rs56679084 |
| ebi | rs56679084 |
| HLI | rs56679084 |
| Exac | rs56679084 |
| Gnomad | rs56679084 |
| Varsome | rs56679084 |
| LitVar | rs56679084 |
| Map | rs56679084 |
| PheGenI | rs56679084 |
| Biobank | rs56679084 |
| 1000 genomes | rs56679084 |
| hgdp | rs56679084 |
| ensembl | rs56679084 |
| geneview | rs56679084 |
| scholar | rs56679084 |
| rs56679084 | |
| pharmgkb | rs56679084 |
| gwascentral | rs56679084 |
| openSNP | rs56679084 |
| 23andMe | rs56679084 |
| SNPshot | rs56679084 |
| SNPdbe | rs56679084 |
| MSV3d | rs56679084 |
| GWAS Ctlg | rs56679084 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs56679084(C;C) |
| Alt | rs56679084(C;C) |
| Reference | Rs56679084(G;G) |
| Significance | Pathogenic |
| Disease | not provided Alexander's disease |
| Variation | info |
| Gene | GFAP |
| CLNDBN | not provided Alexander's disease |
| Reversed | 1 |
| HGVS | NC_000017.10:g.42990750C>G |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000056895.1, RCV000192110.1, RCV000192131.1, |
