rs17571
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | Normal risk of vCJD |
(T;T) | 2.1 | Increase in risk of vCJD. But rare. |
Make rs17571(C;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 1761364 |
Gene | CTSD |
is a | snp |
is | mentioned by |
dbSNP | rs17571 |
dbSNP (classic) | rs17571 |
ClinGen | rs17571 |
ebi | rs17571 |
HLI | rs17571 |
Exac | rs17571 |
Gnomad | rs17571 |
Varsome | rs17571 |
LitVar | rs17571 |
Map | rs17571 |
PheGenI | rs17571 |
Biobank | rs17571 |
1000 genomes | rs17571 |
hgdp | rs17571 |
ensembl | rs17571 |
geneview | rs17571 |
scholar | rs17571 |
rs17571 | |
pharmgkb | rs17571 |
gwascentral | rs17571 |
openSNP | rs17571 |
23andMe | rs17571 |
SNPshot | rs17571 |
SNPdbe | rs17571 |
MSV3d | rs17571 |
GWAS Ctlg | rs17571 |
GMAF | 0.05096 |
Max Magnitude | 2.1 |
? | (C;C) (C;T) (T;T) | 28 |
---|---|---|
|
[1] 110 Variant Creutzfeldt-Jakob disease (vCJD) patients were tested for the C-T base change. significant excess of the cathepsin D polymorphism TT genotype in the vCJD cohort compared to controls. The TT genotype was found to have a 9.75 fold increase in risk of vCJD compared to the CT genotype and a 10.92 fold increase compared to the CC genotype. The disease was known as "mad cow" when an outbreak occurred in Britain in the 1990s.
[PMID 20083556] The Cathepsin D (224C/T) Polymorphism Confers an Increased Risk to Develop Alzheimer's Disease in Men
[PMID 16652347] The cathepsin D rs17571 polymorphism: effects on CSF tau concentrations in Alzheimer disease.
[PMID 17601350] A genetic association analysis of cognitive ability and cognitive ageing using 325 markers for 109 genes associated with oxidative stress or cognition.
[PMID 18248894] Short arm of chromosome 11 and sporadic Alzheimer's disease: catalase and cathepsin D gene polymorphisms.
[PMID 18426579] Cathepsin D SNP associated with increased risk of variant Creutzfeldt-Jakob disease.
[PMID 18830724] Assessment of Alzheimer's disease case-control associations using family-based methods.
[PMID 19926167] Cathepsin D gene and the risk of Alzheimer's disease: a population-based study and meta-analysis.
[PMID 23415546] Cerebellar dysfunction in a family harboring the PSEN1 mutation co-segregating with a Cathepsin D variant p.A58V
ClinVar | |
---|---|
Risk | Rs17571(T;T) |
Alt | Rs17571(T;T) |
Reference | Rs17571(C;C) |
Significance | Other |
Disease | not specified Neuronal Ceroid-Lipofuscinosis |
Variation | info |
Gene | CTSD |
CLNDBN | not specified Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive |
Reversed | 1 |
HGVS | NC_000011.9:g.1782594G>A |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000116853.5, RCV000343645.1, |