rs574125890
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common/normal |
| (G;T) | 7 | Alzheimer's disease (reported) |
| Make rs574125890(T;T) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 1 |
| Position | 226888902 |
| Gene | PSEN2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs574125890 |
| dbSNP (classic) | rs574125890 |
| ClinGen | rs574125890 |
| ebi | rs574125890 |
| HLI | rs574125890 |
| Exac | rs574125890 |
| Gnomad | rs574125890 |
| Varsome | rs574125890 |
| LitVar | rs574125890 |
| Map | rs574125890 |
| PheGenI | rs574125890 |
| Biobank | rs574125890 |
| 1000 genomes | rs574125890 |
| hgdp | rs574125890 |
| ensembl | rs574125890 |
| geneview | rs574125890 |
| scholar | rs574125890 |
| rs574125890 | |
| pharmgkb | rs574125890 |
| gwascentral | rs574125890 |
| openSNP | rs574125890 |
| 23andMe | rs574125890 |
| SNPshot | rs574125890 |
| SNPdbe | rs574125890 |
| MSV3d | rs574125890 |
| GWAS Ctlg | rs574125890 |
| Max Magnitude | 7 |
rs574125890, also known as c.640G>T, V214L or Val214Leu, is a mutation in the presenilin 2 PSEN2 gene. Note the presence of another variant for this SNP, c.640G>A, of unknown pathogenicity.
The minor allele is reported as pathogenic for Alzheimer's disease in the AlzForum database, based on two publications,
including [PMID 24885952].
