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: rs4252185
rs4252185 		1.000 0.040 6 160702419 intron variant T/C snv 5.7E-02
CUI: C1096202
Disease: Lipoprotein (a) measurement
Lipoprotein (a) measurement 		0.700 1.000 1 2017 2017
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: rs9458010
rs9458010 		6 160704387 intron variant T/C snv 0.38
CUI: C1096202
Disease: Lipoprotein (a) measurement
Lipoprotein (a) measurement 		0.700 1.000 1 2017 2017
dbSNP: rs12529361
rs12529361 		6 160704599 intron variant T/C snv 0.18
CUI: C1096202
Disease: Lipoprotein (a) measurement
Lipoprotein (a) measurement 		0.700 1.000 1 2017 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: 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: 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: rs59614420
rs59614420 		6 160707981 non coding transcript exon variant G/A snv 0.30
CUI: C1096202
Disease: Lipoprotein (a) measurement
Lipoprotein (a) measurement 		0.700 1.000 1 2017 2017
dbSNP: rs770198253
rs770198253 		1.000 0.120 6 160713018 missense variant T/C;G snv 4.0E-06; 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 0.700 0
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: 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: rs4252109
rs4252109 		6 160716631 intron variant T/G snv 0.21 0.23
CUI: C1096202
Disease: Lipoprotein (a) measurement
Lipoprotein (a) measurement 		0.700 1.000 1 2017 2017
dbSNP: rs121918034
rs121918034 		1.000 0.120 6 160716663 inframe deletion GAA/- delins 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 0.700 0
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: 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: 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: 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