{{Rsnum
|rsid=17571
|Gene=CTSD
|Chromosome=11
|position=1761364
|Orientation=minus
|ReferenceAllele=C
|MissenseAllele=T
|GMAF=0.05096
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=CTSD
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;T)
| geno3=(T;T)
| CEU | 82.3 | 17.7 | 0.0
| HCB | 87.6 | 12.4 | 0.0
| JPT | 99.1 | 0.9 | 0.0
| YRI | 95.9 | 4.1 | 0.0
| ASW | 93.0 | 7.0 | 0.0
| CHB | 87.6 | 12.4 | 0.0
| CHD | 95.4 | 4.6 | 0.0
| GIH | 84.2 | 14.9 | 1.0
| LWK | 91.8 | 7.3 | 0.9
| MEX | 93.1 | 6.9 | 0.0
| MKK | 71.2 | 26.3 | 2.6
| TSI | 86.3 | 12.7 | 1.0
| HapMapRevision=28
}}[http://7thspace.com/headlines/279477/cathepsin_d_snp_associated_with_increased_risk_of_variant_creutzfeldt_jakob_disease.html] 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 Auto
|PMID=20083556
|Title=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|OA=1
}} 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|OA=1
}} Cathepsin D SNP associated with increased risk of variant Creutzfeldt-Jakob disease.

{{PMID|18830724|OA=1
}} 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
|gene=CTSD
|aa_change=Ala58Val
|aa_change_short=A58V
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs17571
|overall_frequency_n=694
|overall_frequency_d=10758
|overall_frequency=0.0645101
|n_genomes=7
|n_genomes_annotated=0
|n_haplomes=6
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|pph2_score=0.003
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=2
|autoscore=3
|n_web_uneval=10
}}

{{PMID Auto
|PMID=23415546
|Title=Cerebellar dysfunction in a family harboring the PSEN1 mutation co-segregating with a Cathepsin D variant p.A58V
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}