rs57590980
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs57590980(A;G) |
| Make rs57590980(G;G) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 17 |
| Position | 44915257 |
| Gene | GFAP |
| is a | snp |
| is | mentioned by |
| dbSNP | rs57590980 |
| dbSNP (classic) | rs57590980 |
| ClinGen | rs57590980 |
| ebi | rs57590980 |
| HLI | rs57590980 |
| Exac | rs57590980 |
| Gnomad | rs57590980 |
| Varsome | rs57590980 |
| LitVar | rs57590980 |
| Map | rs57590980 |
| PheGenI | rs57590980 |
| Biobank | rs57590980 |
| 1000 genomes | rs57590980 |
| hgdp | rs57590980 |
| ensembl | rs57590980 |
| geneview | rs57590980 |
| scholar | rs57590980 |
| rs57590980 | |
| pharmgkb | rs57590980 |
| gwascentral | rs57590980 |
| openSNP | rs57590980 |
| 23andMe | rs57590980 |
| SNPshot | rs57590980 |
| SNPdbe | rs57590980 |
| MSV3d | rs57590980 |
| GWAS Ctlg | rs57590980 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs57590980(G;G) |
| Alt | rs57590980(G;G) |
| Reference | Rs57590980(A;A) |
| 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.42992625T>C |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000056865.1, RCV000192107.1, |
