rs533813519
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;C) | 7 | Early-onset Alzheimer's disease (predicted as possible) |
| (C;C) | 0 | common/normal |
| Make rs533813519(A;A) |
| Reference | GRCh38.p7 38.3/151 |
| Chromosome | 1 |
| Position | 226888097 |
| Gene | PSEN2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs533813519 |
| dbSNP (classic) | rs533813519 |
| ClinGen | rs533813519 |
| ebi | rs533813519 |
| HLI | rs533813519 |
| Exac | rs533813519 |
| Gnomad | rs533813519 |
| Varsome | rs533813519 |
| LitVar | rs533813519 |
| Map | rs533813519 |
| PheGenI | rs533813519 |
| Biobank | rs533813519 |
| 1000 genomes | rs533813519 |
| hgdp | rs533813519 |
| ensembl | rs533813519 |
| geneview | rs533813519 |
| scholar | rs533813519 |
| rs533813519 | |
| pharmgkb | rs533813519 |
| gwascentral | rs533813519 |
| openSNP | rs533813519 |
| 23andMe | rs533813519 |
| SNPshot | rs533813519 |
| SNPdbe | rs533813519 |
| MSV3d | rs533813519 |
| GWAS Ctlg | rs533813519 |
| Max Magnitude | 7 |
aka c.505C>A, p.His169Asn or H169N
The rare rs533813519(C) mutation in the PSEN2 gene was observed in a female Korean patient with early-onset Alzheimer's disease and was considered to be associated and most likely inherited in an autosomal dominant manner.[PMID 25323700]
