PLG, plasminogen, 5340

N. diseases: 586; N. variants: 34
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: rs4252120
rs4252120 		0.827 0.080 6 160722576 intron variant T/C;G snv 0.21
CUI: C0001342
Disease: Acute periodontitis
Acute periodontitis 		Stomatognathic Diseases 0.020 0.500 2 2015 2017
dbSNP: rs4252120
rs4252120 		0.827 0.080 6 160722576 intron variant T/C;G snv 0.21
CUI: C0031106
Disease: Aggressive Periodontitis
Aggressive Periodontitis 		Stomatognathic Diseases 0.020 0.500 2 2015 2017
dbSNP: rs779290753
rs779290753 		1.000 0.080 6 160706424 missense variant G/A snv 8.0E-06
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2008 2008
dbSNP: rs889957249
rs889957249 		1.000 0.160 6 160718730 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0002994
Disease: Angioedema
Angioedema 		Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs889957249
rs889957249 		1.000 0.160 6 160718730 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0019243
Disease: Angioedemas, Hereditary
Angioedemas, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases 0.720 1.000 2 2019 2019
dbSNP: rs753879928
rs753879928 		1.000 0.160 6 160718432 missense variant G/C snv 1.6E-05
CUI: C0019243
Disease: Angioedemas, Hereditary
Angioedemas, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases 0.010 1.000 1 2020 2020
dbSNP: rs121918027
rs121918027 		0.827 0.320 6 160738593 missense variant G/A snv 1.4E-03 3.5E-04
CUI: C0085278
Disease: Antiphospholipid Syndrome
Antiphospholipid Syndrome 		Immune System Diseases 0.010 1.000 1 2002 2002
dbSNP: rs4252120
rs4252120 		0.827 0.080 6 160722576 intron variant T/C;G snv 0.21
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2017 2017
dbSNP: rs4252120
rs4252120 		0.827 0.080 6 160722576 intron variant T/C;G snv 0.21
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2017 2017
dbSNP: rs121918027
rs121918027 		0.827 0.320 6 160738593 missense variant G/A snv 1.4E-03 3.5E-04
CUI: C2931788
Disease: Atypical Hemolytic Uremic Syndrome
Atypical Hemolytic Uremic Syndrome 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2016 2016
dbSNP: rs4252129
rs4252129 		6 160731873 missense variant C/T snv 6.6E-03 7.6E-03
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs537579467
rs537579467 		6 160734232 intron variant T/C snv 6.4E-03
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs764948729
rs764948729 		0.925 0.080 6 160731092 missense variant A/C snv 4.0E-06
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		Cardiovascular Diseases 0.010 1.000 1 2019 2019
dbSNP: rs774229224
rs774229224 		0.882 0.160 6 160706454 missense variant C/A;G snv 4.0E-06; 4.0E-06
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		Cardiovascular Diseases 0.010 1.000 1 2019 2019
dbSNP: rs774229224
rs774229224 		0.882 0.160 6 160706454 missense variant C/A;G snv 4.0E-06; 4.0E-06
CUI: C0007785
Disease: Cerebral Infarction
Cerebral Infarction 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 1998 1998
dbSNP: rs774229224
rs774229224 		0.882 0.160 6 160706454 missense variant C/A;G snv 4.0E-06; 4.0E-06
CUI: C0007820
Disease: Cerebrovascular Disorders
Cerebrovascular Disorders 		Nervous System Diseases; Cardiovascular Diseases 0.010 < 0.001 1 1998 1998
dbSNP: rs4252120
rs4252120 		0.827 0.080 6 160722576 intron variant T/C;G snv 0.21
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.710 1.000 2 2013 2015
dbSNP: rs4252185
rs4252185 		1.000 0.040 6 160702419 intron variant T/C snv 5.7E-02
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.700 1.000 1 2015 2015
dbSNP: rs121918027
rs121918027 		0.827 0.320 6 160738593 missense variant G/A snv 1.4E-03 3.5E-04
CUI: C0149871
Disease: Deep Vein Thrombosis
Deep Vein Thrombosis 		Cardiovascular Diseases 0.010 1.000 1 2003 2003
dbSNP: rs764948729
rs764948729 		0.925 0.080 6 160731092 missense variant A/C snv 4.0E-06
CUI: C0149871
Disease: Deep Vein Thrombosis
Deep Vein Thrombosis 		Cardiovascular Diseases 0.010 1.000 1 2009 2009
dbSNP: rs145192723
rs145192723 		0.925 0.120 6 160714828 synonymous variant C/T snv 6.0E-04 2.2E-03
CUI: C0011847
Disease: Diabetes
Diabetes 		Endocrine System Diseases 0.010 1.000 1 2004 2004
dbSNP: rs783147
rs783147 		1.000 0.040 6 160716958 intron variant G/A snv 0.39
CUI: C0011847
Disease: Diabetes
Diabetes 		Endocrine System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs145192723
rs145192723 		0.925 0.120 6 160714828 synonymous variant C/T snv 6.0E-04 2.2E-03
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2004 2004
dbSNP: rs783147
rs783147 		1.000 0.040 6 160716958 intron variant G/A snv 0.39
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs778686781
rs778686781 		1.000 0.080 6 160718329 missense variant T/C snv 4.0E-06
CUI: C1260903
Disease: Dysfibrinogenemia
Dysfibrinogenemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 2000 2000