rs63751320
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| (A;C) | 9 | early-onset Alzheimers disease |
| Make rs63751320(C;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 14 |
| Position | 73192862 |
| Gene | PSEN1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs63751320 |
| dbSNP (classic) | rs63751320 |
| ClinGen | rs63751320 |
| ebi | rs63751320 |
| HLI | rs63751320 |
| Exac | rs63751320 |
| Gnomad | rs63751320 |
| Varsome | rs63751320 |
| LitVar | rs63751320 |
| Map | rs63751320 |
| PheGenI | rs63751320 |
| Biobank | rs63751320 |
| 1000 genomes | rs63751320 |
| hgdp | rs63751320 |
| ensembl | rs63751320 |
| geneview | rs63751320 |
| scholar | rs63751320 |
| rs63751320 | |
| pharmgkb | rs63751320 |
| gwascentral | rs63751320 |
| openSNP | rs63751320 |
| 23andMe | rs63751320 |
| SNPshot | rs63751320 |
| SNPdbe | rs63751320 |
| MSV3d | rs63751320 |
| GWAS Ctlg | rs63751320 |
| Max Magnitude | 9 |
rs63751320, also known as Y256S or Tyr256Ser, is a SNP in the presenilin 1 PSEN1 gene.
The rare rs63751320(C) allele is considered causative for early-onset Alzheimer's disease.[PMID 12885573]
| ClinVar | |
|---|---|
| Risk | rs63751320(C;C) |
| Alt | rs63751320(C;C) |
| Reference | Rs63751320(A;A) |
| 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.73659570A>C |
| CLNSRC | ClinVar GeneReviews Neurodegenerative Brain Diseases Group |
| CLNACC | RCV000020087.1, RCV000084364.1, |
[PMID 12885573] Two novel presenilin-1 mutations (Y256S and Q222H) are associated with early-onset Alzheimer's disease.
