CST3, cystatin C, 1471

N. diseases: 370; N. variants: 10
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: rs28939068
rs28939068 		0.790 0.200 20 23635330 missense variant A/T snv
CUI: C0021364
Disease: Male infertility
Male infertility 		Male Urogenital Diseases 0.010 1.000 1 2014 2014
dbSNP: rs28939068
rs28939068 		0.790 0.200 20 23635330 missense variant A/T snv
CUI: C3899403
Disease: Decreased Concentration
Decreased Concentration 		0.010 1.000 1 1998 1998
dbSNP: rs28939068
rs28939068 		0.790 0.200 20 23635330 missense variant A/T snv
CUI: C1510489
Disease: Cerebral Amyloid Angiopathy, Hereditary
Cerebral Amyloid Angiopathy, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 1998 1998
dbSNP: rs546173157
rs546173157 		20 23637668 missense variant G/C snv 7.0E-06 3.5E-05
CUI: C0877008
Disease: Enzyme inhibition disorder
Enzyme inhibition disorder 		0.010 < 0.001 1 2013 2013
dbSNP: rs6048952
rs6048952 		1.000 0.080 20 23626620 downstream gene variant A/G snv 0.27
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs911119
rs911119 		0.807 0.120 20 23632100 non coding transcript exon variant C/G;T snv
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		Cardiovascular Diseases 0.010 < 0.001 1 2016 2016
dbSNP: rs911119
rs911119 		0.807 0.120 20 23632100 non coding transcript exon variant C/G;T snv
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2016 2016
dbSNP: rs911119
rs911119 		0.807 0.120 20 23632100 non coding transcript exon variant C/G;T snv
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.010 1.000 1 2016 2016
dbSNP: rs911119
rs911119 		0.807 0.120 20 23632100 non coding transcript exon variant C/G;T snv
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		Cardiovascular Diseases 0.010 1.000 1 2016 2016
dbSNP: rs911119
rs911119 		0.807 0.120 20 23632100 non coding transcript exon variant C/G;T snv
CUI: C0018801
Disease: Heart failure
Heart failure 		Cardiovascular Diseases 0.010 1.000 1 2016 2016
dbSNP: rs911119
rs911119 		0.807 0.120 20 23632100 non coding transcript exon variant C/G;T snv
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.010 1.000 1 2016 2016