rs2227564
A SNP in the PLAU gene on chromosome 10. Its most notable genotype is T;T: common in clinvar
- Gene
- PLAU
- Location
- Chr 1073,913,343 (GRCh38)
- Highest magnitude
- 0.0Typical
- Tested on
- 23andMe, AncestryDNA, FamilyTreeDNA
- Minor allele frequency
- 20%
Genotypes
As shown in 23andMe and AncestryDNA files.
On SNPedia: (T;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Frequency
Share of each genotype in 10 HapMap populations.
- AverageT;T 6%
- European ancestry (Utah)T;T 6%
- Han Chinese (Beijing)T;T 14%
- Japanese (Tokyo)T;T 4%
- Yoruba (Nigeria)T;T 0%
- African ancestry (Southwest US)T;T 0%
- Chinese (Denver)T;T 12%
- Gujarati IndianT;T 11%
- Mexican ancestry (Los Angeles)T;T 7%
- Maasai (Kenya)T;T 0%
- TuscanT;T 4%
Related
Conditions, medicines and genes
Notes
From SNPedia
Show notes, about 380 words
rs2227564 A functional polymorphism within plasminogen activator urokinase (PLAU) is associated with Alzheimer's disease . *rs2227564 distribution of four tagSNPs (rs2227562 in intron 5, rs2227564 in exon 6, rs2227571 in intron 9, and rs4065 in 3' UTR) in the PLAU gene in a large case-control study of Alzheimer's disease No association of a non-synonymous PLAU polymorphism with Alzheimer's disease and disease-related traits. Elevated amyloid beta protein (Abeta42) and late onset Alzheimer's disease are associated with single nucleotide polymorphisms in the urokinase-type plasminogen activator gene. Linkage disequilibrium patterns and tagSNP transferability among European populations. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. Association of tagSNPs in the urokinase-plasminogen activator (PLAU) gene with Alzheimer's disease and associated quantitative traits. The urokinase-type plasminogen activator polymorphism PLAU_1 is a risk factor for APOE-epsilon4 non-carriers in the Italian Alzheimer's disease population and does not affect the plasma Abeta(1-42) level. Association of urokinase-type plasminogen activator with asthma and atopy. A genetic association analysis of cognitive ability and cognitive ageing using 325 markers for 109 genes associated with oxidative stress or cognition. Association between urokinase haplotypes and outcome from infection-associated acute lung injury. Confronting complexity in late-onset Alzheimer disease: application of two-stage analysis approach addressing heterogeneity and epistasis. Genomic variation in myeloma: design, content, and initial application of the Bank On A Cure SNP Panel to detect associations with progression-free survival. Development of a fingerprinting panel using medically relevant polymorphisms. Polymorphic variation of genes in the fibrinolytic system and the risk of ovarian cancer. Association of putative functional variants in the PLAU gene and the PLAUR gene with myocardial infarction. Population based allele frequencies of disease associated polymorphisms in the Personalized Medicine Research Project. Genetic variants in fibrinolytic system-related genes in infertile women with and without endometriosis.
Source and license
Adapted from rs2227564 on SNPedia, using a snapshot taken October 16, 2026. SNPedia content is shared under CC BY-NC-SA 3.0 US, and this page is shared under the same license.
SNPedia is a community-edited wiki. Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice. Magnitude is a community rating of how interesting a genotype is, not a risk score.