rs362344
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs362344(C;T) |
| Make rs362344(T;T) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 14 |
| Position | 73223011 |
| Gene | PSEN1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs362344 |
| dbSNP (classic) | rs362344 |
| ClinGen | rs362344 |
| ebi | rs362344 |
| HLI | rs362344 |
| Exac | rs362344 |
| Gnomad | rs362344 |
| Varsome | rs362344 |
| LitVar | rs362344 |
| Map | rs362344 |
| PheGenI | rs362344 |
| Biobank | rs362344 |
| 1000 genomes | rs362344 |
| hgdp | rs362344 |
| ensembl | rs362344 |
| geneview | rs362344 |
| scholar | rs362344 |
| rs362344 | |
| pharmgkb | rs362344 |
| gwascentral | rs362344 |
| openSNP | rs362344 |
| 23andMe | rs362344 |
| SNPshot | rs362344 |
| SNPdbe | rs362344 |
| MSV3d | rs362344 |
| GWAS Ctlg | rs362344 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
[PMID 25808939
] Cerebrospinal fluid Aβ42 levels and APP processing pathway genes in Parkinson's disease
| ClinVar | |
|---|---|
| Risk | rs362344(T;T) |
| Alt | rs362344(T;T) |
| Reference | Rs362344(C;C) |
| Significance | Probable-non-pathogenic |
| Disease | Early-Onset Familial Alzheimer Disease Dilated Cardiomyopathy |
| Variation | info |
| Gene | PSEN1 |
| CLNDBN | Early-Onset Familial Alzheimer Disease Dilated Cardiomyopathy, Dominant |
| Reversed | 0 |
| HGVS | NC_000014.8:g.73689719C>T |
| CLNSRC | |
| CLNACC | RCV000350674.1, RCV000386646.1, |
