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: 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: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement
0.700 1.000 1 2018 2018
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: 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: rs778612720
rs778612720
10 73914117 missense variant A/G snv 1.2E-05
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.010 1.000 1 2020 2020