rs2227564

plus

Geno	Mag	Summary
(T;T)	0	common in clinvar

Make rs2227564(C;C)

Make rs2227564(C;T)

Reference

GRCh38 38.1/141

Chromosome

10

Position

73913343

Gene	C10orf55, PLAU

is a	snp
is	mentioned by
dbSNP	rs2227564
dbSNP (classic)	rs2227564
ClinGen	rs2227564
ebi	rs2227564
HLI	rs2227564
Exac	rs2227564
Gnomad	rs2227564
Varsome	rs2227564
LitVar	rs2227564
Map	rs2227564
PheGenI	rs2227564
Biobank	rs2227564
1000 genomes	rs2227564
hgdp	rs2227564
ensembl	rs2227564
geneview	rs2227564
scholar	rs2227564
google	rs2227564
pharmgkb	rs2227564
gwascentral	rs2227564
openSNP	rs2227564
23andMe	rs2227564
SNPshot	rs2227564
SNPdbe	rs2227564
MSV3d	rs2227564
GWAS Ctlg	rs2227564

GMAF

0.2029

Max Magnitude

0

?

(C;C) (C;T) (T;T)

28

rs2227564 A functional polymorphism within plasminogen activator urokinase (PLAU) is associated with Alzheimer's disease [PMID 16825285].

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

OMIM	191840
Desc	ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO
Variant	0001
Related	also

OMIM	605526
Desc	ALZHEIMER DISEASE 6
Variant
Related	also

[PMID 21627387] A C to T polymorphism of Urokinase Plasminogen Activator (P141L) is Associated with Helicobacter pylori Infection

ClinVar
Risk	rs2227564(C;C)
Alt	rs2227564(C;C)
Reference	Rs2227564(T;T)
Significance	Other
Disease	Alzheimer disease
Variation	info
Gene	PLAU C10orf55
CLNDBN	Alzheimer disease, late-onset, susceptibility to
Reversed	0
HGVS	NC_000010.10:g.75673101T\x3d
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000013052.2,

[PMID 15558716] No association of a non-synonymous PLAU polymorphism with Alzheimer's disease and disease-related traits.

[PMID 15615772] Elevated amyloid beta protein (Abeta42) and late onset Alzheimer's disease are associated with single nucleotide polymorphisms in the urokinase-type plasminogen activator gene.

[PMID 15637659 ] Linkage disequilibrium patterns and tagSNP transferability among European populations.

[PMID 16385451 ] A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.

[PMID 16967469] Association of tagSNPs in the urokinase-plasminogen activator (PLAU) gene with Alzheimer's disease and associated quantitative traits.

[PMID 17174555] 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.

[PMID 17363771] Association of urokinase-type plasminogen activator with asthma and atopy.

[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 17994220] Association between urokinase haplotypes and outcome from infection-associated acute lung injury.

[PMID 18076107 ] Confronting complexity in late-onset Alzheimer disease: application of two-stage analysis approach addressing heterogeneity and epistasis.

[PMID 18778477 ] Genomic variation in myeloma: design, content, and initial application of the Bank On A Cure SNP Panel to detect associations with progression-free survival.

[PMID 19379518 ] Development of a fingerprinting panel using medically relevant polymorphisms.

[PMID 19526059 ] Polymorphic variation of genes in the fibrinolytic system and the risk of ovarian cancer.

[PMID 20518747] Association of putative functional variants in the PLAU gene and the PLAUR gene with myocardial infarction.

[PMID 20565774 ] Population based allele frequencies of disease associated polymorphisms in the Personalized Medicine Research Project.

[PMID 21819230] Genetic variants in fibrinolytic system-related genes in infertile women with and without endometriosis.

GWAS snp
PMID	[PMID 23128233 ]
Trait	Inflammatory bowel disease
Title	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
Risk Allele	C
P-val	7E-10
Odds Ratio	1.08 [1.048-1.118]

[PMID 23621237] Single Nucleotide Polymorphisms in the u-PA Gene are Related to Susceptibility to Oral Tongue Squamous Cell Carcinoma in the Northern Chinese Han Population

[PMID 23628797] Significant association of urokinase plasminogen activator Pro141Leu with serum lipid profiles in a Japanese population.

[PMID 23813610] Meta-analysis of the association between urokinase-plasminogen activator gene rs2227564 polymorphism and Alzheimer's disease.