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: 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: 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: 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: rs121918027
rs121918027 		0.827 0.320 6 160738593 missense variant G/A snv 1.4E-03 3.5E-04
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism 		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: rs121918027
rs121918027 		0.827 0.320 6 160738593 missense variant G/A snv 1.4E-03 3.5E-04
CUI: C0042373
Disease: Vascular Diseases
Vascular Diseases 		Cardiovascular Diseases 0.010 1.000 1 1997 1997
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: rs121918027
rs121918027 		0.827 0.320 6 160738593 missense variant G/A snv 1.4E-03 3.5E-04
CUI: C0398623
Disease: Thrombophilia
Thrombophilia 		Hemic and Lymphatic Diseases 0.010 1.000 1 2013 2013
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: rs121918030
rs121918030 		0.925 0.120 6 160716680 missense variant G/A snv
CUI: C1274789
Disease: Ligneous conjunctivitis
Ligneous conjunctivitis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases 0.010 1.000 1 1997 1997
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: 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: rs145192723
rs145192723 		0.925 0.120 6 160714828 synonymous variant C/T snv 6.0E-04 2.2E-03
CUI: C0262469
Disease: Embolic stroke
Embolic stroke 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2004 2004
dbSNP: rs181030365
rs181030365 		1.000 0.120 6 160741375 missense variant G/A;T snv 4.0E-06; 4.0E-06
CUI: C1968804
Disease: Plasminogen Deficiency, Type I
Plasminogen Deficiency, Type I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases 0.010 1.000 1 2003 2003
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: 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: rs4252134
rs4252134 		0.925 0.160 6 160732495 intron variant T/C snv 0.21
CUI: C0039483
Disease: Giant Cell Arteritis
Giant Cell Arteritis 		Skin and Connective Tissue Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2017 2017
dbSNP: rs73015965
rs73015965 		0.925 0.160 6 160706469 missense variant A/G snv 3.0E-03 2.8E-03
CUI: C0398621
Disease: Hypoplasminogenemia
Hypoplasminogenemia 		Hemic and Lymphatic Diseases 0.010 1.000 1 2003 2003
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: rs764948729
rs764948729 		0.925 0.080 6 160731092 missense variant A/C snv 4.0E-06
CUI: C4552766
Disease: Miscarriage
Miscarriage 		Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2013 2013
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: 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: rs774229224
rs774229224 		0.882 0.160 6 160706454 missense variant C/A;G snv 4.0E-06; 4.0E-06
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		Digestive System Diseases 0.010 1.000 1 2008 2008
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: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		Cardiovascular Diseases 0.010 1.000 1 2019 2019