rs200538373
From SNPedia
| Alzheimer association |
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 3 | somewhat higher risk for Alzheimers |
| (C;G) | 2.8 | ~2x higher risk for Alzheimer's disease |
| (G;G) | 0 | common/normal |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 19 |
| Position | 1061893 |
| Gene | ABCA7 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs200538373 |
| dbSNP (classic) | rs200538373 |
| ClinGen | rs200538373 |
| ebi | rs200538373 |
| HLI | rs200538373 |
| Exac | rs200538373 |
| Gnomad | rs200538373 |
| Varsome | rs200538373 |
| LitVar | rs200538373 |
| Map | rs200538373 |
| PheGenI | rs200538373 |
| Biobank | rs200538373 |
| 1000 genomes | rs200538373 |
| hgdp | rs200538373 |
| ensembl | rs200538373 |
| geneview | rs200538373 |
| scholar | rs200538373 |
| rs200538373 | |
| pharmgkb | rs200538373 |
| gwascentral | rs200538373 |
| openSNP | rs200538373 |
| 23andMe | rs200538373 |
| SNPshot | rs200538373 |
| SNPdbe | rs200538373 |
| MSV3d | rs200538373 |
| GWAS Ctlg | rs200538373 |
| Max Magnitude | 3 |
rs200538373, also known as c.5570+5G>C, 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 rs200538373(C) allele are at roughly twice the risk for developing late-onset Alzheimer's disease compared to people having the most common genotype (G;G); the odds ratio is 1.91, p=3.8 × 10e−6.[PMID 25807283]
[PMID 28655137
] Alzheimer's Disease Genetics and ABCA7 Splicing.
