rs74315408
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs74315408(A;A) |
| Make rs74315408(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 20 |
| Position | 4699758 |
| Gene | PRNP |
| is a | snp |
| is | mentioned by |
| dbSNP | rs74315408 |
| dbSNP (classic) | rs74315408 |
| ClinGen | rs74315408 |
| ebi | rs74315408 |
| HLI | rs74315408 |
| Exac | rs74315408 |
| Gnomad | rs74315408 |
| Varsome | rs74315408 |
| LitVar | rs74315408 |
| Map | rs74315408 |
| PheGenI | rs74315408 |
| Biobank | rs74315408 |
| 1000 genomes | rs74315408 |
| hgdp | rs74315408 |
| ensembl | rs74315408 |
| geneview | rs74315408 |
| scholar | rs74315408 |
| rs74315408 | |
| pharmgkb | rs74315408 |
| gwascentral | rs74315408 |
| openSNP | rs74315408 |
| 23andMe | rs74315408 |
| SNPshot | rs74315408 |
| SNPdbe | rs74315408 |
| MSV3d | rs74315408 |
| GWAS Ctlg | rs74315408 |
| GMAF | 0.0004591 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs74315408(A;A) |
| Alt | rs74315408(A;A) |
| Reference | Rs74315408(G;G) |
| Significance | Other |
| Disease | Jakob-Creutzfeldt disease Genetic prion diseases |
| Variation | info |
| Gene | PRNP |
| CLNDBN | Jakob-Creutzfeldt disease Genetic prion diseases |
| Reversed | 0 |
| HGVS | NC_000020.10:g.4680404G>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000014344.24, RCV000020249.1, |
[PMID 8461023] Novel missense variants of prion protein in Creutzfeldt-Jakob disease or Gerstmann-Straussler syndrome.
[PMID 14872044] Clinical features of Creutzfeldt-Jakob disease with V180I mutation.
