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: 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: rs6036478
rs6036478 		20 23630722 intron variant C/A snv 0.21
CUI: C1619716
Disease: Cystatin C measurement
Cystatin C measurement 		0.700 1.000 1 2017 2017
dbSNP: rs71334202
rs71334202 		20 23638015 intron variant A/C;G snv
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs2424577
rs2424577 		1.000 0.040 20 23633113 intron variant G/A;C snv
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 1.000 1 2017 2017
dbSNP: rs35610040
rs35610040 		1.000 0.040 20 23635832 intron variant T/C snv 0.19
CUI: C0948089
Disease: Acute Coronary Syndrome
Acute Coronary Syndrome 		Cardiovascular Diseases 0.700 1.000 1 2014 2014
dbSNP: rs35610040
rs35610040 		1.000 0.040 20 23635832 intron variant T/C snv 0.19
CUI: C1619716
Disease: Cystatin C measurement
Cystatin C measurement 		0.700 1.000 1 2014 2014
dbSNP: rs13038305
rs13038305 		0.925 0.080 20 23629625 intron variant C/T snv 0.21
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs13038305
rs13038305 		0.925 0.080 20 23629625 intron variant C/T snv 0.21
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		Nutritional and Metabolic Diseases 0.010 1.000 1 2016 2016
dbSNP: rs13038305
rs13038305 		0.925 0.080 20 23629625 intron variant C/T snv 0.21
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs13038305
rs13038305 		0.925 0.080 20 23629625 intron variant C/T snv 0.21
CUI: C0011847
Disease: Diabetes
Diabetes 		Endocrine System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs13038305
rs13038305 		0.925 0.080 20 23629625 intron variant C/T snv 0.21
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2014 2014
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: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2010 2010
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: C1619716
Disease: Cystatin C measurement
Cystatin C measurement 		0.700 1.000 1 2010 2010
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: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2010 2010
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
dbSNP: rs28939068
rs28939068 		0.790 0.200 20 23635330 missense variant A/T snv
CUI: C3839957
Disease: Hereditary cystatin C amyloid angiopathy
Hereditary cystatin C amyloid angiopathy 		Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases 0.090 1.000 9 1994 2018
dbSNP: rs1064039
rs1064039 		0.827 0.200 20 23637790 missense variant C/G;T snv 0.20
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.040 1.000 4 2006 2015
dbSNP: rs28939068
rs28939068 		0.790 0.200 20 23635330 missense variant A/T snv
CUI: C1527338
Disease: Hereditary Cerebral Amyloid Angiopathy, Icelandic Type
Hereditary Cerebral Amyloid Angiopathy, Icelandic Type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases 0.810 0.750 4 1989 2010
dbSNP: rs28939068
rs28939068 		0.790 0.200 20 23635330 missense variant A/T snv
CUI: C0002726
Disease: Amyloidosis
Amyloidosis 		Nutritional and Metabolic Diseases 0.030 1.000 3 1994 2018