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, |