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: 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: 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: rs121918028
rs121918028 		1.000 0.120 6 160722431 missense variant G/T snv 8.0E-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 0.810 1.000 9 1982 2003
dbSNP: rs121918029
rs121918029 		1.000 0.120 6 160736976 missense variant T/C 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: 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: rs121918031
rs121918031 		1.000 0.120 6 160738583 stop gained G/A;C snv 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: rs121918032
rs121918032 		1.000 0.120 6 160731229 stop gained G/A;T 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 0.700 0
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: 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: 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: 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: rs147402310
rs147402310 		6 160742498 intron variant T/G snv 2.4E-02
CUI: C1096202
Disease: Lipoprotein (a) measurement
Lipoprotein (a) measurement 		0.700 1.000 1 2017 2017
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: 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: 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: 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: 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