rs59285727
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs59285727(A;A) |
| Make rs59285727(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 17 |
| Position | 44915251 |
| Gene | GFAP |
| is a | snp |
| is | mentioned by |
| dbSNP | rs59285727 |
| dbSNP (classic) | rs59285727 |
| ClinGen | rs59285727 |
| ebi | rs59285727 |
| HLI | rs59285727 |
| Exac | rs59285727 |
| Gnomad | rs59285727 |
| Varsome | rs59285727 |
| LitVar | rs59285727 |
| Map | rs59285727 |
| PheGenI | rs59285727 |
| Biobank | rs59285727 |
| 1000 genomes | rs59285727 |
| hgdp | rs59285727 |
| ensembl | rs59285727 |
| geneview | rs59285727 |
| scholar | rs59285727 |
| rs59285727 | |
| pharmgkb | rs59285727 |
| gwascentral | rs59285727 |
| openSNP | rs59285727 |
| 23andMe | rs59285727 |
| SNPshot | rs59285727 |
| SNPdbe | rs59285727 |
| MSV3d | rs59285727 |
| GWAS Ctlg | rs59285727 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs59285727(A;A) rs59285727(C;C) rs59285727(T;T) |
| Alt | rs59285727(A;A) rs59285727(C;C) rs59285727(T;T) |
| Reference | Rs59285727(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.42992619C>A; NC_000017.10:g.42992619C>G; NC_000017.10:g.42992619C>T |
| CLNSRC | UniProtKB (protein) OMIM Allelic Variant |
| CLNACC | RCV000056871.1, RCV000192112.1, RCV000056870.1, RCV000192111.1, RCV000017553.26, RCV000056869.1, RCV000192110.1, |
