rs755101354
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Make rs755101354(G;G) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 1 |
| Position | 226885663 |
| Gene | PSEN2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs755101354 |
| dbSNP (classic) | rs755101354 |
| ClinGen | rs755101354 |
| ebi | rs755101354 |
| HLI | rs755101354 |
| Exac | rs755101354 |
| Gnomad | rs755101354 |
| Varsome | rs755101354 |
| LitVar | rs755101354 |
| Map | rs755101354 |
| PheGenI | rs755101354 |
| Biobank | rs755101354 |
| 1000 genomes | rs755101354 |
| hgdp | rs755101354 |
| ensembl | rs755101354 |
| geneview | rs755101354 |
| scholar | rs755101354 |
| rs755101354 | |
| pharmgkb | rs755101354 |
| gwascentral | rs755101354 |
| openSNP | rs755101354 |
| 23andMe | rs755101354 |
| SNPshot | rs755101354 |
| SNPdbe | rs755101354 |
| MSV3d | rs755101354 |
| GWAS Ctlg | rs755101354 |
| Max Magnitude | 0 |
aka c.482A>G, p.Lys161Arg
rs755101354, also known as c.482A>G, K161R or Lys161Arg, is a SNP in the presenilin 2 PSEN2 gene.
Inherited as an autosomal dominant, the rare rs755101354(G) allele is considered causative for early-onset Alzheimer's disease according to two publications cited in AlzForum including [PMID 18667258
].
The mutation is also considered "possibly" pathogenic for early-onset Alzheimer's disease in [PMID 28350801].
