rs63749851
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| (A;C) | 9 | Early-onset Alzheimer's disease |
| Make rs63749851(C;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 226885545 |
| Gene | PSEN2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs63749851 |
| dbSNP (classic) | rs63749851 |
| ClinGen | rs63749851 |
| ebi | rs63749851 |
| HLI | rs63749851 |
| Exac | rs63749851 |
| Gnomad | rs63749851 |
| Varsome | rs63749851 |
| LitVar | rs63749851 |
| Map | rs63749851 |
| PheGenI | rs63749851 |
| Biobank | rs63749851 |
| 1000 genomes | rs63749851 |
| hgdp | rs63749851 |
| ensembl | rs63749851 |
| geneview | rs63749851 |
| scholar | rs63749851 |
| rs63749851 | |
| pharmgkb | rs63749851 |
| gwascentral | rs63749851 |
| openSNP | rs63749851 |
| 23andMe | rs63749851 |
| SNPshot | rs63749851 |
| SNPdbe | rs63749851 |
| MSV3d | rs63749851 |
| GWAS Ctlg | rs63749851 |
| Max Magnitude | 9 |
rs63749851, also known as c.364A>C, T122P or Thr122Pro, is a SNP in the presenilin 2 PSEN2 gene.
Inherited as an autosomal dominant, the rare rs63749851(C) allele is considered causative for early-onset Alzheimer's disease, as reported in [PMID 10631141
]. If you are aware of individuals carrying this allele who are past the age of 50 and who are not Alzheimer patients, please let us know.
This mutation is also reported as pathogenic in ClinVar, AlzForum and listed as "probably" pathogenic in [PMID 28350801].
| ClinVar | |
|---|---|
| Risk | rs63749851(C;C) |
| Alt | rs63749851(C;C) |
| Reference | Rs63749851(A;A) |
| 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.227073246A>C |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000009397.3, RCV000084260.1, |
