rs367855127
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common/normal |
| (C;T) | 7 | Possible early-onset Alzheimer's disease mutation; see discussion |
| Make rs367855127(T;T) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 1 |
| Position | 226888974 |
| Gene | PSEN2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs367855127 |
| dbSNP (classic) | rs367855127 |
| ClinGen | rs367855127 |
| ebi | rs367855127 |
| HLI | rs367855127 |
| Exac | rs367855127 |
| Gnomad | rs367855127 |
| Varsome | rs367855127 |
| LitVar | rs367855127 |
| Map | rs367855127 |
| PheGenI | rs367855127 |
| Biobank | rs367855127 |
| 1000 genomes | rs367855127 |
| hgdp | rs367855127 |
| ensembl | rs367855127 |
| geneview | rs367855127 |
| scholar | rs367855127 |
| rs367855127 | |
| pharmgkb | rs367855127 |
| gwascentral | rs367855127 |
| openSNP | rs367855127 |
| 23andMe | rs367855127 |
| SNPshot | rs367855127 |
| SNPdbe | rs367855127 |
| MSV3d | rs367855127 |
| GWAS Ctlg | rs367855127 |
| Max Magnitude | 7 |
rs367855127, also known as c.712C>T, p.Leu238Phe and L238F, is a variant in the PSEN2 gene on chromosome 10.
The rs367855127(T) variant was found in a single individual diagnosed with early-onset Alzheimer's disease and with no family history of the disorder. As cited in the AlzForum mutation database, this is reported to be an early-onset mutation, although confirmatory evidence does not appear to be available as of yet.[PMID 25937274]
