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
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: rs1064039
rs1064039
0.827 0.200 20 23637790 missense variant C/G;T snv 0.20
Age-Related Macular Degeneration type 11
Eye Diseases 0.800 0
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: 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: 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: 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: 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: rs28939068
rs28939068
0.790 0.200 20 23635330 missense variant A/T snv
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: C0002726
Disease: Amyloidosis
Amyloidosis
Nutritional and Metabolic Diseases 0.030 1.000 3 1994 2018
dbSNP: rs28939068
rs28939068
0.790 0.200 20 23635330 missense variant A/T snv
CUI: C2936349
Disease: Plaque, Amyloid
Plaque, Amyloid
Pathological Conditions, Signs and Symptoms 0.020 1.000 2 2002 2004
dbSNP: rs28939068
rs28939068
0.790 0.200 20 23635330 missense variant A/T snv
CUI: C0085220
Disease: Cerebral Amyloid Angiopathy
Cerebral Amyloid Angiopathy
Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases 0.020 1.000 2 2000 2008
dbSNP: rs1064039
rs1064039
0.827 0.200 20 23637790 missense variant C/G;T snv 0.20
CUI: C0155626
Disease: Acute myocardial infarction
Acute myocardial infarction
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2005 2005
dbSNP: rs1064039
rs1064039
0.827 0.200 20 23637790 missense variant C/G;T snv 0.20
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
Eye Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1064039
rs1064039
0.827 0.200 20 23637790 missense variant C/G;T snv 0.20
CUI: C0027765
Disease: nervous system disorder
nervous system disorder
Nervous System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs1064039
rs1064039
0.827 0.200 20 23637790 missense variant C/G;T snv 0.20
Exudative age-related macular degeneration
Eye Diseases 0.010 1.000 1 2004 2004
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: 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: rs28939068
rs28939068
0.790 0.200 20 23635330 missense variant A/T snv
CUI: C1842937
Disease: AURAL ATRESIA, CONGENITAL
AURAL ATRESIA, CONGENITAL
Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.010 1.000 1 2008 2008