rs17852079
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 6 | Gerstmann–Straussler–Scheinker syndrome |
| Make rs17852079(A;A) |
| Make rs17852079(A;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 20 |
| Position | 4699899 |
| Gene | PRNP |
| is a | snp |
| is | mentioned by |
| dbSNP | rs17852079 |
| dbSNP (classic) | rs17852079 |
| ClinGen | rs17852079 |
| ebi | rs17852079 |
| HLI | rs17852079 |
| Exac | rs17852079 |
| Gnomad | rs17852079 |
| Varsome | rs17852079 |
| LitVar | rs17852079 |
| Map | rs17852079 |
| PheGenI | rs17852079 |
| Biobank | rs17852079 |
| 1000 genomes | rs17852079 |
| hgdp | rs17852079 |
| ensembl | rs17852079 |
| geneview | rs17852079 |
| scholar | rs17852079 |
| rs17852079 | |
| pharmgkb | rs17852079 |
| gwascentral | rs17852079 |
| openSNP | rs17852079 |
| 23andMe | rs17852079 |
| SNPshot | rs17852079 |
| SNPdbe | rs17852079 |
| MSV3d | rs17852079 |
| GWAS Ctlg | rs17852079 |
| Max Magnitude | 6 |
| ClinVar | |
|---|---|
| Risk | rs17852079(A;A) rs17852079(T;T) |
| Alt | rs17852079(A;A) rs17852079(T;T) |
| Reference | Rs17852079(C;C) |
| Significance | Pathogenic |
| Disease | Gerstmann-Straussler-Scheinker syndrome |
| Variation | info |
| Gene | PRNP |
| CLNDBN | Gerstmann-Straussler-Scheinker syndrome |
| Reversed | 0 |
| HGVS | NC_000020.10:g.4680545C>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000074472.17, |
