rs58645997
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs58645997(C;C) |
| Make rs58645997(C;G) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 17 |
| Position | 44911273 |
| Gene | GFAP |
| is a | snp |
| is | mentioned by |
| dbSNP | rs58645997 |
| dbSNP (classic) | rs58645997 |
| ClinGen | rs58645997 |
| ebi | rs58645997 |
| HLI | rs58645997 |
| Exac | rs58645997 |
| Gnomad | rs58645997 |
| Varsome | rs58645997 |
| LitVar | rs58645997 |
| Map | rs58645997 |
| PheGenI | rs58645997 |
| Biobank | rs58645997 |
| 1000 genomes | rs58645997 |
| hgdp | rs58645997 |
| ensembl | rs58645997 |
| geneview | rs58645997 |
| scholar | rs58645997 |
| rs58645997 | |
| pharmgkb | rs58645997 |
| gwascentral | rs58645997 |
| openSNP | rs58645997 |
| 23andMe | rs58645997 |
| SNPshot | rs58645997 |
| SNPdbe | rs58645997 |
| MSV3d | rs58645997 |
| GWAS Ctlg | rs58645997 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs58645997(A;A) rs58645997(C;C) |
| Alt | rs58645997(A;A) rs58645997(C;C) |
| Reference | Rs58645997(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.42988641C>G; NC_000017.10:g.42988641C>T |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000056826.1, RCV000192165.1, RCV000192164.1, |
