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: 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: 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: 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: 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: rs4252134
rs4252134 		0.925 0.160 6 160732495 intron variant T/C snv 0.21
CUI: C1956391
Disease: Temporal Arteritis
Temporal Arteritis 		Skin and Connective Tissue Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 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: 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: 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: 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: 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: 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
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: 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: 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: 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: 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: 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: 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: 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