rs112611995
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs112611995(C;C) |
| Make rs112611995(C;G) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 17 |
| Position | 44913433 |
| Gene | GFAP |
| is a | snp |
| is | mentioned by |
| dbSNP | rs112611995 |
| dbSNP (classic) | rs112611995 |
| ClinGen | rs112611995 |
| ebi | rs112611995 |
| HLI | rs112611995 |
| Exac | rs112611995 |
| Gnomad | rs112611995 |
| Varsome | rs112611995 |
| LitVar | rs112611995 |
| Map | rs112611995 |
| PheGenI | rs112611995 |
| Biobank | rs112611995 |
| 1000 genomes | rs112611995 |
| hgdp | rs112611995 |
| ensembl | rs112611995 |
| geneview | rs112611995 |
| scholar | rs112611995 |
| rs112611995 | |
| pharmgkb | rs112611995 |
| gwascentral | rs112611995 |
| openSNP | rs112611995 |
| 23andMe | rs112611995 |
| SNPshot | rs112611995 |
| SNPdbe | rs112611995 |
| MSV3d | rs112611995 |
| GWAS Ctlg | rs112611995 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs112611995(C;C) |
| Alt | rs112611995(C;C) |
| Reference | Rs112611995(G;G) |
| Significance | Pathogenic |
| Disease | Alexander's disease |
| Variation | info |
| Gene | GFAP |
| CLNDBN | Alexander's disease |
| Reversed | 0 |
| HGVS | NC_000017.10:g.42990801G>C |
| CLNSRC | |
| CLNACC | RCV000192191.1, |
