rs63750815
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| (G;T) | 9 | early-onset Alzheimers disease |
| Make rs63750815(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 14 |
| Position | 73170974 |
| Gene | PSEN1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs63750815 |
| dbSNP (classic) | rs63750815 |
| ClinGen | rs63750815 |
| ebi | rs63750815 |
| HLI | rs63750815 |
| Exac | rs63750815 |
| Gnomad | rs63750815 |
| Varsome | rs63750815 |
| LitVar | rs63750815 |
| Map | rs63750815 |
| PheGenI | rs63750815 |
| Biobank | rs63750815 |
| 1000 genomes | rs63750815 |
| hgdp | rs63750815 |
| ensembl | rs63750815 |
| geneview | rs63750815 |
| scholar | rs63750815 |
| rs63750815 | |
| pharmgkb | rs63750815 |
| gwascentral | rs63750815 |
| openSNP | rs63750815 |
| 23andMe | rs63750815 |
| SNPshot | rs63750815 |
| SNPdbe | rs63750815 |
| MSV3d | rs63750815 |
| GWAS Ctlg | rs63750815 |
| Max Magnitude | 9 |
rs63750815, also known as V89L or Val89Leu, is a SNP in the presenilin 1 PSEN1 gene.
The rare rs63750815(T) allele is considered causative for early-onset Alzheimer's disease.[PMID 11796781
]
| ClinVar | |
|---|---|
| Risk | rs63750815(T;T) |
| Alt | rs63750815(T;T) |
| Reference | Rs63750815(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.73637682G>T |
| CLNSRC | ClinVar GeneReviews Neurodegenerative Brain Diseases Group |
| CLNACC | RCV000020083.1, RCV000084285.1, |
[PMID 11796781] A novel mutation (V89L) in the presenilin 1 gene in a family with early onset Alzheimer's disease and marked behavioural disturbances.
