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, |
