rs200670135
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs200670135(C;T) |
| Make rs200670135(T;T) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 1 |
| Position | 226888972 |
| Gene | PSEN2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs200670135 |
| dbSNP (classic) | rs200670135 |
| ClinGen | rs200670135 |
| ebi | rs200670135 |
| HLI | rs200670135 |
| Exac | rs200670135 |
| Gnomad | rs200670135 |
| Varsome | rs200670135 |
| LitVar | rs200670135 |
| Map | rs200670135 |
| PheGenI | rs200670135 |
| Biobank | rs200670135 |
| 1000 genomes | rs200670135 |
| hgdp | rs200670135 |
| ensembl | rs200670135 |
| geneview | rs200670135 |
| scholar | rs200670135 |
| rs200670135 | |
| pharmgkb | rs200670135 |
| gwascentral | rs200670135 |
| openSNP | rs200670135 |
| 23andMe | rs200670135 |
| SNPshot | rs200670135 |
| SNPdbe | rs200670135 |
| MSV3d | rs200670135 |
| GWAS Ctlg | rs200670135 |
| Max Magnitude | 0 |
rs200670135, also known as c.710C>T, p.Ala237Val and A237V, represents a rare variant in the PSEN2 gene on chromosome 1.
[PMID 25104557
] This study of UK patients with late-onset Alzheimer's disease concludes this variant is most likely pathogenic, although note that the onset may be quite late (87 years of age).
| ClinVar | |
|---|---|
| Risk | rs200670135(T;T) |
| Alt | rs200670135(T;T) |
| Reference | Rs200670135(C;C) |
| Significance | Unknown |
| Disease | not provided |
| Variation | info |
| Gene | PSEN2 |
| CLNDBN | not provided |
| Reversed | 0 |
| HGVS | NC_000001.10:g.227076673C>T |
| CLNSRC | |
| CLNACC | RCV000172100.1, |
