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rs17571

From SNPedia

Orientationminus
Stabilizedminus
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)
ReferenceGRCh38 38.1/141
Chromosome11
Position1761364
GeneCTSD
is asnp
is mentioned by
dbSNPrs17571
ebirs17571
HLIrs17571
Exacrs17571
Varsomers17571
Maprs17571
PheGenIrs17571
hapmaprs17571
1000 genomesrs17571
hgdprs17571
ensemblrs17571
gopubmedrs17571
geneviewrs17571
scholarrs17571
googlers17571
pharmgkbrs17571
gwascentralrs17571
openSNPrs17571
23andMers17571
23andMe allrs17571
SNP Nexus

SNPshotrs17571
SNPdbers17571
MSV3drs17571
GWAS Ctlgrs17571
GMAF0.05096
Max Magnitude2.1
? (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 17601350OA-icon.png] 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 18426579OA-icon.png] Cathepsin D SNP associated with increased risk of variant Creutzfeldt-Jakob disease.

[PMID 18830724OA-icon.png] 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.


GET Evidence
CTSD-A58V
aa_change Ala58Val
aa_change_short A58V
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.0645101
summary



[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
Variation info
Gene CTSD
CLNDBN not specified
Reversed 1
HGVS NC_000011.9:g.1782594G>A
CLNSRC ClinVar GeneDx University of Chicago
CLNACC RCV000116853.4,