rs63750812
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 5 | Alzheimer's disease association reported; see discussion |
| (G;G) | 0 | common in clinvar |
| Make rs63750812(A;A) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 1 |
| Position | 226885623 |
| Gene | PSEN2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs63750812 |
| dbSNP (classic) | rs63750812 |
| ClinGen | rs63750812 |
| ebi | rs63750812 |
| HLI | rs63750812 |
| Exac | rs63750812 |
| Gnomad | rs63750812 |
| Varsome | rs63750812 |
| LitVar | rs63750812 |
| Map | rs63750812 |
| PheGenI | rs63750812 |
| Biobank | rs63750812 |
| 1000 genomes | rs63750812 |
| hgdp | rs63750812 |
| ensembl | rs63750812 |
| geneview | rs63750812 |
| scholar | rs63750812 |
| rs63750812 | |
| pharmgkb | rs63750812 |
| gwascentral | rs63750812 |
| openSNP | rs63750812 |
| 23andMe | rs63750812 |
| SNPshot | rs63750812 |
| SNPdbe | rs63750812 |
| MSV3d | rs63750812 |
| GWAS Ctlg | rs63750812 |
| Max Magnitude | 5 |
rs63750812, also known as V148I or Val148Ile, is a SNP in the presenilin PSEN2 gene.
Inherited as an autosomal dominant, the rare rs63750812(A) allele is reported to be causative for early-onset Alzheimer's disease.[PMID 10732806] However, the AlzForum also reports that "No change in proteolytic products PSEN2-CTF and PSEN2-NTF; no change in Aβ42 levels or the Aβ42/Aβ40 ratio", and in combination with the original report, this allele may be more of a predisposing than causative mutation.
| ClinVar | |
|---|---|
| Risk | rs63750812(A;A) |
| Alt | rs63750812(A;A) |
| Reference | Rs63750812(G;G) |
| Significance | Untested |
| Disease | not provided |
| Variation | info |
| Gene | PSEN2 |
| CLNDBN | not provided |
| Reversed | 0 |
| HGVS | NC_000001.10:g.227073324G>A |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000084263.1, |
