rs661
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 9 | early onset Alzheimer's disease |
| (A;G) | 9 | early-onset Alzheimers disease |
| (G;G) | 0 | normal |
| Reference | GRCh38 38.1/141 |
| Chromosome | 14 |
| Position | 73217225 |
| Gene | PSEN1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs661 |
| dbSNP (classic) | rs661 |
| ClinGen | rs661 |
| ebi | rs661 |
| HLI | rs661 |
| Exac | rs661 |
| Gnomad | rs661 |
| Varsome | rs661 |
| LitVar | rs661 |
| Map | rs661 |
| PheGenI | rs661 |
| Biobank | rs661 |
| 1000 genomes | rs661 |
| hgdp | rs661 |
| ensembl | rs661 |
| geneview | rs661 |
| scholar | rs661 |
| rs661 | |
| pharmgkb | rs661 |
| gwascentral | rs661 |
| openSNP | rs661 |
| 23andMe | rs661 |
| SNPshot | rs661 |
| SNPdbe | rs661 |
| MSV3d | rs661 |
| GWAS Ctlg | rs661 |
| Max Magnitude | 9 |
rs661, also known as C410Y or Cys410Tyr, is a SNP in the presenilin 1 PSEN1 gene.
The rare rs661(A) allele is considered causative for early-onset Alzheimer's disease.[PMID 7596406]
23andMe calls this i5007546
| ClinVar | |
|---|---|
| Risk | Rs661(A;A) rs661(T;T) |
| Alt | Rs661(A;A) rs661(T;T) |
| Reference | Rs661(G;G) |
| Significance | Pathogenic |
| Disease | Alzheimer disease not provided |
| Variation | info |
| Gene | PSEN1 |
| CLNDBN | Alzheimer disease, type 3 not provided |
| Reversed | 0 |
| HGVS | NC_000014.8:g.73683933G>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000019755.28, RCV000084407.1, |
