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
] 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, | 


