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: 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: 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
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: 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: 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