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: 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
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: 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
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: 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: rs1064039
rs1064039 		0.827 0.200 20 23637790 missense variant C/G;T snv 0.20
CUI: C0271084
Disease: Exudative age-related macular degeneration
Exudative age-related macular degeneration 		Eye Diseases 0.010 1.000 1 2004 2004
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: rs1064039
rs1064039 		0.827 0.200 20 23637790 missense variant C/G;T snv 0.20
CUI: C2677774
Disease: Age-Related Macular Degeneration type 11
Age-Related Macular Degeneration type 11 		Eye Diseases 0.800 0