rs775145486
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Make rs775145486(G;G) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 1 |
| Position | 226888116 |
| Gene | PSEN2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs775145486 |
| dbSNP (classic) | rs775145486 |
| ClinGen | rs775145486 |
| ebi | rs775145486 |
| HLI | rs775145486 |
| Exac | rs775145486 |
| Gnomad | rs775145486 |
| Varsome | rs775145486 |
| LitVar | rs775145486 |
| Map | rs775145486 |
| PheGenI | rs775145486 |
| Biobank | rs775145486 |
| 1000 genomes | rs775145486 |
| hgdp | rs775145486 |
| ensembl | rs775145486 |
| geneview | rs775145486 |
| scholar | rs775145486 |
| rs775145486 | |
| pharmgkb | rs775145486 |
| gwascentral | rs775145486 |
| openSNP | rs775145486 |
| 23andMe | rs775145486 |
| SNPshot | rs775145486 |
| SNPdbe | rs775145486 |
| MSV3d | rs775145486 |
| GWAS Ctlg | rs775145486 |
| Max Magnitude | 0 |
rs775145486, also known as c.524C>G, S175C or Ser175Cys, is a SNP in the presenilin 2 PSEN2 gene.
Reported in the AlzForum database as pathogenic for Alzheimer's disease, based on the 2010 publication [PMID 20164579].
Note that the 23andMe name for this mutation is i5047676.
