rs11405
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs11405(C;C) |
| Make rs11405(C;T) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 1 |
| Position | 226881976 |
| Gene | PSEN2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs11405 |
| dbSNP (classic) | rs11405 |
| ClinGen | rs11405 |
| ebi | rs11405 |
| HLI | rs11405 |
| Exac | rs11405 |
| Gnomad | rs11405 |
| Varsome | rs11405 |
| LitVar | rs11405 |
| Map | rs11405 |
| PheGenI | rs11405 |
| Biobank | rs11405 |
| 1000 genomes | rs11405 |
| hgdp | rs11405 |
| ensembl | rs11405 |
| geneview | rs11405 |
| scholar | rs11405 |
| rs11405 | |
| pharmgkb | rs11405 |
| gwascentral | rs11405 |
| openSNP | rs11405 |
| 23andMe | rs11405 |
| SNPshot | rs11405 |
| SNPdbe | rs11405 |
| MSV3d | rs11405 |
| GWAS Ctlg | rs11405 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
A SNP in the presenilin gene PSEN2.
| ClinVar | |
|---|---|
| Risk | rs11405(C;C) |
| Alt | rs11405(C;C) |
| Reference | Rs11405(T;T) |
| Significance | Probable-non-pathogenic |
| Disease | not specified Dilated Cardiomyopathy Early-Onset Familial Alzheimer Disease |
| Variation | info |
| Gene | PSEN2 |
| CLNDBN | not specified Dilated Cardiomyopathy, Dominant Early-Onset Familial Alzheimer Disease |
| Reversed | 0 |
| HGVS | NC_000001.10:g.227069677T>C |
| CLNSRC | |
| CLNACC | RCV000248412.1, RCV000286903.1, RCV000372045.1, |
