rs200754713
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common/normal |
| (A;G) | 7 | Frontotemporal dementia (reported) |
| Make rs200754713(G;G) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 1 |
| Position | 226888954 |
| Gene | PSEN2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs200754713 |
| dbSNP (classic) | rs200754713 |
| ClinGen | rs200754713 |
| ebi | rs200754713 |
| HLI | rs200754713 |
| Exac | rs200754713 |
| Gnomad | rs200754713 |
| Varsome | rs200754713 |
| LitVar | rs200754713 |
| Map | rs200754713 |
| PheGenI | rs200754713 |
| Biobank | rs200754713 |
| 1000 genomes | rs200754713 |
| hgdp | rs200754713 |
| ensembl | rs200754713 |
| geneview | rs200754713 |
| scholar | rs200754713 |
| rs200754713 | |
| pharmgkb | rs200754713 |
| gwascentral | rs200754713 |
| openSNP | rs200754713 |
| 23andMe | rs200754713 |
| SNPshot | rs200754713 |
| SNPdbe | rs200754713 |
| MSV3d | rs200754713 |
| GWAS Ctlg | rs200754713 |
| Max Magnitude | 7 |
rs200754713, also known as c.692A>G, Y231C or Tyr231Cys, is a SNP in the presenilin 2 PSEN2 gene.
The rare rs200754713(G) allele is considered pathogenic as an autosomal dominant for Frontotemporal dementia; a patient with this allele was described as exhibiting behavioral abnormalities and language impairment.[PMID 19276543]. See also AlzForum.
