Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2227564
rs2227564
PLAU ; C10orf55
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.020 GeneticVariation BEFREE This meta-analysis showed that T allele of rs2227564 polymorphism in PLAU gene could increase the effects on risk of AD, and this result needs to be confirmed by further studies. 23813610

2013
dbSNP: rs2227564
rs2227564
PLAU ; C10orf55
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.020 GeneticVariation BEFREE We identified that one functional exonic SNP (rs2227564) is associated with development of AD using the four independent case-control samples (Munich, P=0.02; Bonn, P=0.005; Brescia (Italy), P=0.001; Perth (Australia), P=0.03) and the discordant sib-pair sample (P=0.001). 16825285

2006
dbSNP: rs1338100379
rs1338100379
PLAU ; C10orf55
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 GeneticVariation BEFREE This translated to a 10-fold increase in tumor retention after 24 h compared to PAI-2(C161S), an effect not seen in non-target organs. 25231010

2015
dbSNP: rs145070893
rs145070893
PLAU ; C10orf55
CUI: C0025221
Disease: Meleda Disease
Meleda Disease 		0.010 GeneticVariation BEFREE Patients with MDM with the homozygous SLURP-1 G86R mutation may have an impaired T-cell activation. 20854438

2011
dbSNP: rs2227564
rs2227564
PLAU ; C10orf55
CUI: C0005779
Disease: Blood Coagulation Disorders
Blood Coagulation Disorders 		0.010 GeneticVariation BEFREE For instance, in a number of variants related to clotting disorders, the phenotype-associated allele is a human genome reference allele (rs6025, rs6003, rs1799983, and rs2227564 using the assembly hg19). 29334895

2018
dbSNP: rs2227564
rs2227564
PLAU ; C10orf55
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		0.010 GeneticVariation BEFREE The PLAU P141L single nucleotide polymorphism is associated with collateral circulation in patients with coronary artery disease. 24952395

2014
dbSNP: rs2227564
rs2227564
PLAU ; C10orf55
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		0.010 GeneticVariation BEFREE The PLAU P141L single nucleotide polymorphism is associated with collateral circulation in patients with coronary artery disease. 24952395

2014
dbSNP: rs2227564
rs2227564
PLAU ; C10orf55
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.010 GeneticVariation BEFREE The PLAU P141L single nucleotide polymorphism is associated with collateral circulation in patients with coronary artery disease. 24952395

2014
dbSNP: rs2227564
rs2227564
PLAU ; C10orf55
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 GeneticVariation BEFREE This study investigated associations of a C-to-T polymorphism of uPA (P141L, rs2227564) in exon 6 in 454 Japanese health checkup examinees (126 males and 328 females) aged 35 to 85 without a history of cancer. 21627387

2011
dbSNP: rs2227564
rs2227564
PLAU ; C10orf55
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 GeneticVariation BEFREE This study investigated associations of a C-to-T polymorphism of uPA (P141L, rs2227564) in exon 6 in 454 Japanese health checkup examinees (126 males and 328 females) aged 35 to 85 without a history of cancer. 21627387

2011
dbSNP: rs2227564
rs2227564
PLAU ; C10orf55
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		0.010 GeneticVariation BEFREE We genotyped rs4065 [3'-UTR (untranslated region) *141C>T) and rs2227564 (Pro141Leu) in the PLAU gene as well as rs344781 (-516T>C) in the PLAUR gene in 633 MI patients and 1237 gender- and age-matched control subjects. 20518747

2010
dbSNP: rs2227564
rs2227564
PLAU ; C10orf55
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		0.010 GeneticVariation BEFREE In order to elucidate the possible role of the Pro121Leu exchange in uPA and the Ala/Thr variants in the signal sequence of PAI-1 in the development and/or progression of human ovarian cancer, we studied the presence of these mutants or variants in a series of 22 ovarian cancer tissues. 9194591

1997
dbSNP: rs2227564
rs2227564
PLAU ; C10orf55
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 GeneticVariation BEFREE In addition to the wild-type sequence, the Pro121Leu exchange in the uPA sequence was detected in 10 out of 22 tumor tissues; 11 tumors carried exclusively the Pro121 allele; in one case exclusively the Leu121 allele was detected. 9194591

1997
dbSNP: rs2227564
rs2227564
PLAU ; C10orf55
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.010 GeneticVariation BEFREE In order to elucidate the possible role of the Pro121Leu exchange in uPA and the Ala/Thr variants in the signal sequence of PAI-1 in the development and/or progression of human ovarian cancer, we studied the presence of these mutants or variants in a series of 22 ovarian cancer tissues. 9194591

1997
dbSNP: rs2227564
rs2227564
PLAU ; C10orf55
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		0.010 GeneticVariation BEFREE In order to elucidate the possible role of the Pro121Leu exchange in uPA and the Ala/Thr variants in the signal sequence of PAI-1 in the development and/or progression of human ovarian cancer, we studied the presence of these mutants or variants in a series of 22 ovarian cancer tissues. 9194591

1997
dbSNP: rs4065
rs4065
PLAU ; C10orf55
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 GeneticVariation BEFREE Logistic regression analysis revealed that individuals with uPA rs4065 TT genotype have higher odds ratios (ORs) for lung cancer. 20937265

2011
dbSNP: rs4065
rs4065
PLAU ; C10orf55
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.010 GeneticVariation BEFREE Our results revealed that genetic polymorphisms of the uPA rs4065 C/T and uPAR rs344781 (-516 T/C) were associated with the susceptibility and severity of NSCLC. 20937265

2011
dbSNP: rs4065
rs4065
PLAU ; C10orf55
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.010 GeneticVariation BEFREE Logistic regression analysis revealed that individuals with uPA rs4065 TT genotype have higher odds ratios (ORs) for lung cancer. 20937265

2011
dbSNP: rs4065
rs4065
PLAU ; C10orf55
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.010 GeneticVariation BEFREE Logistic regression analysis revealed that individuals with uPA rs4065 TT genotype have higher odds ratios (ORs) for lung cancer. 20937265

2011
dbSNP: rs756402191
rs756402191
PLAU ; C10orf55
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.010 GeneticVariation BEFREE The lung-enriched p53 mutants V157F and R158L/P regulate a gain of function transcriptome in lung cancer. 31067569

2020
dbSNP: rs756402191
rs756402191
PLAU ; C10orf55
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.010 GeneticVariation BEFREE The lung-enriched p53 mutants V157F and R158L/P regulate a gain of function transcriptome in lung cancer. 31067569

2020
dbSNP: rs756402191
rs756402191
PLAU ; C10orf55
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 GeneticVariation BEFREE The lung-enriched p53 mutants V157F and R158L/P regulate a gain of function transcriptome in lung cancer. 31067569

2020
dbSNP: rs778612720
rs778612720
PLAU ; C10orf55
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 GeneticVariation BEFREE The canonical p53 hotspot mutants R175H and R273H, for example, confer upon tumors a metastatic phenotype in murine models of mutant p53. 31067569

2020