rs57815192
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs57815192(A;G) |
| Make rs57815192(G;G) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 17 |
| Position | 44911251 |
| Gene | GFAP |
| is a | snp |
| is | mentioned by |
| dbSNP | rs57815192 |
| dbSNP (classic) | rs57815192 |
| ClinGen | rs57815192 |
| ebi | rs57815192 |
| HLI | rs57815192 |
| Exac | rs57815192 |
| Gnomad | rs57815192 |
| Varsome | rs57815192 |
| LitVar | rs57815192 |
| Map | rs57815192 |
| PheGenI | rs57815192 |
| Biobank | rs57815192 |
| 1000 genomes | rs57815192 |
| hgdp | rs57815192 |
| ensembl | rs57815192 |
| geneview | rs57815192 |
| scholar | rs57815192 |
| rs57815192 | |
| pharmgkb | rs57815192 |
| gwascentral | rs57815192 |
| openSNP | rs57815192 |
| 23andMe | rs57815192 |
| SNPshot | rs57815192 |
| SNPdbe | rs57815192 |
| MSV3d | rs57815192 |
| GWAS Ctlg | rs57815192 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs57815192(G;G) rs57815192(T;T) |
| Alt | rs57815192(G;G) rs57815192(T;T) |
| Reference | Rs57815192(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.42988619T>A; NC_000017.10:g.42988619T>C |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000056832.1, RCV000192171.1, RCV000056831.1, RCV000192170.1, |
