rs113809142
From SNPedia
| Alzheimer association |
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 3 | somewhat higher risk for Alzheimers |
| (G;T) | 2.8 | ~2x higher risk for Alzheimer's disease |
| (T;T) | 0 | common/normal |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 19 |
| Position | 1056245 |
| Gene | ABCA7 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs113809142 |
| dbSNP (classic) | rs113809142 |
| ClinGen | rs113809142 |
| ebi | rs113809142 |
| HLI | rs113809142 |
| Exac | rs113809142 |
| Gnomad | rs113809142 |
| Varsome | rs113809142 |
| LitVar | rs113809142 |
| Map | rs113809142 |
| PheGenI | rs113809142 |
| Biobank | rs113809142 |
| 1000 genomes | rs113809142 |
| hgdp | rs113809142 |
| ensembl | rs113809142 |
| geneview | rs113809142 |
| scholar | rs113809142 |
| rs113809142 | |
| pharmgkb | rs113809142 |
| gwascentral | rs113809142 |
| openSNP | rs113809142 |
| 23andMe | rs113809142 |
| SNPshot | rs113809142 |
| SNPdbe | rs113809142 |
| MSV3d | rs113809142 |
| GWAS Ctlg | rs113809142 |
| Max Magnitude | 3 |
rs113809142, also known as c.4416+2T>G, is one of several loss-of-function ABCA7 mutations associated with Alzheimer's disease initially in Icelanders, and then replicated in other populations.[PMID 25807283]
Carriers of one rare rs113809142(G) allele are at roughly more than twice the risk for developing late-onset Alzheimer's disease compared to people having the most common genotype (T;T); the odds ratio is 4.47, p=3.4 × 10e−7.[PMID 25807283]
