rs63750048
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs63750048(C;T) |
| Make rs63750048(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 226883817 |
| Gene | PSEN2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs63750048 |
| dbSNP (classic) | rs63750048 |
| ClinGen | rs63750048 |
| ebi | rs63750048 |
| HLI | rs63750048 |
| Exac | rs63750048 |
| Gnomad | rs63750048 |
| Varsome | rs63750048 |
| LitVar | rs63750048 |
| Map | rs63750048 |
| PheGenI | rs63750048 |
| Biobank | rs63750048 |
| 1000 genomes | rs63750048 |
| hgdp | rs63750048 |
| ensembl | rs63750048 |
| geneview | rs63750048 |
| scholar | rs63750048 |
| rs63750048 | |
| pharmgkb | rs63750048 |
| gwascentral | rs63750048 |
| openSNP | rs63750048 |
| 23andMe | rs63750048 |
| SNPshot | rs63750048 |
| SNPdbe | rs63750048 |
| MSV3d | rs63750048 |
| GWAS Ctlg | rs63750048 |
| Max Magnitude | 0 |
rs63750048, also known as c.254C>T, A85V or Ala85Val, is a SNP in the presenilin 2 PSEN2 gene.
Inherited as an autosomal dominant, the rare rs63750048(T) allele is reported to lead to an atypical early-onset Alzheimer's disease.[PMID 18427071]
| ClinVar | |
|---|---|
| Risk | rs63750048(T;T) |
| Alt | rs63750048(T;T) |
| Reference | Rs63750048(C;C) |
| Significance | Pathogenic |
| Disease | Alzheimer disease not provided |
| Variation | info |
| Gene | PSEN2 |
| CLNDBN | Alzheimer disease, type 4 not provided |
| Reversed | 0 |
| HGVS | NC_000001.10:g.227071518C>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000009402.4, RCV000084259.1, |
