rs145564988
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;G) | 6 | Alzheimer's disease (reported) |
| (G;G) | 0 | common/normal |
| Make rs145564988(G;T) |
| Make rs145564988(T;T) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 21 |
| Position | 25891785 |
| Gene | APP |
| is a | snp |
| is | mentioned by |
| dbSNP | rs145564988 |
| dbSNP (classic) | rs145564988 |
| ClinGen | rs145564988 |
| ebi | rs145564988 |
| HLI | rs145564988 |
| Exac | rs145564988 |
| Gnomad | rs145564988 |
| Varsome | rs145564988 |
| LitVar | rs145564988 |
| Map | rs145564988 |
| PheGenI | rs145564988 |
| Biobank | rs145564988 |
| 1000 genomes | rs145564988 |
| hgdp | rs145564988 |
| ensembl | rs145564988 |
| geneview | rs145564988 |
| scholar | rs145564988 |
| rs145564988 | |
| pharmgkb | rs145564988 |
| gwascentral | rs145564988 |
| openSNP | rs145564988 |
| 23andMe | rs145564988 |
| SNPshot | rs145564988 |
| SNPdbe | rs145564988 |
| MSV3d | rs145564988 |
| GWAS Ctlg | rs145564988 |
| Max Magnitude | 6 |
APP gene mutation, known as c.2148C>G, p.Ile716Met and I716M. Note that this SNP is defined on the plus strand (yet the cDNA is oriented on the minus), and, that there are more common, synonymous, presumably benign variants (c.2148C>A and c.2148C>T) at this location.
Reported in AlzForum as pathogenic for Alzheimer's disease based on a 2015 publication [PMID 26522186].
