rs28936380
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;G) | 9 | early-onset Alzheimer's disease |
| Make rs28936380(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 226885546 |
| Gene | PSEN2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs28936380 |
| dbSNP (classic) | rs28936380 |
| ClinGen | rs28936380 |
| ebi | rs28936380 |
| HLI | rs28936380 |
| Exac | rs28936380 |
| Gnomad | rs28936380 |
| Varsome | rs28936380 |
| LitVar | rs28936380 |
| Map | rs28936380 |
| PheGenI | rs28936380 |
| Biobank | rs28936380 |
| 1000 genomes | rs28936380 |
| hgdp | rs28936380 |
| ensembl | rs28936380 |
| geneview | rs28936380 |
| scholar | rs28936380 |
| rs28936380 | |
| pharmgkb | rs28936380 |
| gwascentral | rs28936380 |
| openSNP | rs28936380 |
| 23andMe | rs28936380 |
| SNPshot | rs28936380 |
| SNPdbe | rs28936380 |
| MSV3d | rs28936380 |
| GWAS Ctlg | rs28936380 |
| Merged from | Rs137852703 |
| Max Magnitude | 9 |
rs28936380, also known as T122R or Thr122Arg, is a SNP in the presenilin 2 PSEN2 gene.
Inherited as an autosomal dominant, the rare rs28936380(G) allele is considered causative for early-onset Alzheimer's disease.[PMID 14681895]
23andMe calls this i5007545
| ClinVar | |
|---|---|
| Risk | rs28936380(G;G) rs28936380(T;T) |
| Alt | rs28936380(G;G) rs28936380(T;T) |
| Reference | Rs28936380(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.227073247C>G |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000009399.5, RCV000084579.1, |
