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: 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: 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: rs73015965
rs73015965 		0.925 0.160 6 160706469 missense variant A/G snv 3.0E-03 2.8E-03
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 0.800 1.000 1 2019 2019
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: rs774484989
rs774484989 		1.000 0.040 6 160739148 missense variant A/G snv 4.0E-06
CUI: C4552766
Disease: Miscarriage
Miscarriage 		Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2013 2013
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: 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
dbSNP: rs774229224
rs774229224 		0.882 0.160 6 160706454 missense variant C/A;G snv 4.0E-06; 4.0E-06
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		Pathological Conditions, Signs and Symptoms; 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: C4552766
Disease: Miscarriage
Miscarriage 		Female Urogenital Diseases and Pregnancy Complications 0.010 < 0.001 1 2007 2007
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: rs4252198
rs4252198 		6 160752696 intron variant C/G snv 1.0E-02
CUI: C1096202
Disease: Lipoprotein (a) measurement
Lipoprotein (a) measurement 		0.700 1.000 1 2017 2017
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: rs3900809
rs3900809 		6 160714170 intron variant C/T snv 9.3E-02
CUI: C4280669
Disease: Velopharyngeal dysfunction
Velopharyngeal dysfunction 		0.700 1.000 1 2018 2018
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: rs606231210
rs606231210 		1.000 0.120 6 160741417 splice donor variant G/- delins
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 0.700 0
dbSNP: rs121918027
rs121918027 		0.827 0.320 6 160738593 missense variant G/A snv 1.4E-03 3.5E-04
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 0.750 1.000 13 1982 2017
dbSNP: rs121918030
rs121918030 		0.925 0.120 6 160716680 missense variant G/A snv
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 0.800 1.000 8 1982 1999
dbSNP: rs121918033
rs121918033 		1.000 0.120 6 160752240 missense variant G/A snv 1.6E-05 7.0E-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 0.800 1.000 8 1982 1999
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