PLAU, plasminogen activator, urokinase, 5328

N. diseases: 439; N. variants: 8
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs2227551
rs2227551
0.827 0.120 10 73909432 intron variant G/C;T snv
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
Digestive System Diseases 0.700 1.000 2 2015 2016
dbSNP: rs2227551
rs2227551
0.827 0.120 10 73909432 intron variant G/C;T snv
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
Digestive System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs2227551
rs2227551
0.827 0.120 10 73909432 intron variant G/C;T snv
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement
0.700 1.000 1 2018 2018
dbSNP: rs2227551
rs2227551
0.827 0.120 10 73909432 intron variant G/C;T snv
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis
Musculoskeletal Diseases 0.700 1.000 1 2016 2016
dbSNP: rs2227551
rs2227551
0.827 0.120 10 73909432 intron variant G/C;T snv
CUI: C0033860
Disease: Psoriasis
Psoriasis
Skin and Connective Tissue Diseases 0.700 1.000 1 2016 2016
dbSNP: rs2227551
rs2227551
0.827 0.120 10 73909432 intron variant G/C;T snv
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
Digestive System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs4065
rs4065
0.851 0.080 10 73916706 3 prime UTR variant C/T snv 0.51
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2011 2011
dbSNP: rs4065
rs4065
0.851 0.080 10 73916706 3 prime UTR variant C/T snv 0.51
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung
Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2011 2011
dbSNP: rs4065
rs4065
0.851 0.080 10 73916706 3 prime UTR variant C/T snv 0.51
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2011 2011
dbSNP: rs4065
rs4065
0.851 0.080 10 73916706 3 prime UTR variant C/T snv 0.51
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2011 2011
dbSNP: rs756402191
rs756402191
0.882 0.080 10 73913605 missense variant G/A;T snv 1.2E-04; 4.0E-05
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2020 2020
dbSNP: rs756402191
rs756402191
0.882 0.080 10 73913605 missense variant G/A;T snv 1.2E-04; 4.0E-05
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2020 2020
dbSNP: rs756402191
rs756402191
0.882 0.080 10 73913605 missense variant G/A;T snv 1.2E-04; 4.0E-05
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung
Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2020 2020
dbSNP: rs55744193
rs55744193
10 73912301 missense variant G/A snv 4.7E-03 4.9E-03
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement
0.700 1.000 1 2018 2018
dbSNP: rs2227564
rs2227564
0.763 0.320 10 73913343 missense variant T/C snv 0.75 0.81
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
Nervous System Diseases; Mental Disorders 0.020 1.000 2 2006 2013
dbSNP: rs2227564
rs2227564
0.763 0.320 10 73913343 missense variant T/C snv 0.75 0.81
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 1997 1997
dbSNP: rs2227564
rs2227564
0.763 0.320 10 73913343 missense variant T/C snv 0.75 0.81
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
Digestive System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs2227564
rs2227564
0.763 0.320 10 73913343 missense variant T/C snv 0.75 0.81
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis
Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs2227564
rs2227564
0.763 0.320 10 73913343 missense variant T/C snv 0.75 0.81
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs2227564
rs2227564
0.763 0.320 10 73913343 missense variant T/C snv 0.75 0.81
CUI: C0005779
Disease: Blood Coagulation Disorders
Blood Coagulation Disorders
Hemic and Lymphatic Diseases 0.010 1.000 1 2018 2018
dbSNP: rs2227564
rs2227564
0.763 0.320 10 73913343 missense variant T/C snv 0.75 0.81
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
Neoplasms 0.010 1.000 1 2011 2011
dbSNP: rs2227564
rs2227564
0.763 0.320 10 73913343 missense variant T/C snv 0.75 0.81
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2010 2010
dbSNP: rs2227564
rs2227564
0.763 0.320 10 73913343 missense variant T/C snv 0.75 0.81
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases
Digestive System Diseases 0.800 1.000 1 2012 2012
dbSNP: rs2227564
rs2227564
0.763 0.320 10 73913343 missense variant T/C snv 0.75 0.81
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 1997 1997
dbSNP: rs2227564
rs2227564
0.763 0.320 10 73913343 missense variant T/C snv 0.75 0.81
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
Neoplasms 0.010 1.000 1 2011 2011