Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Fabry Disease
CUI: C0002986
Disease: Fabry Disease
206 0.776 0.280 X 101403984 missense variant C/G snv 1.2E-04 1.9E-05 0.800 0.976 42 1989 2018
Cardioembolism (high-risk/medium-risk)
4 0.776 0.280 X 101403984 missense variant C/G snv 1.2E-04 1.9E-05 0.010 1.000 1 2017 2017
Chronic glomerulonephritis
CUI: C0152451
Disease: Chronic glomerulonephritis
7 0.776 0.280 X 101403984 missense variant C/G snv 1.2E-04 1.9E-05 0.010 1.000 1 2016 2016
Chronic kidney disease stage 5
CUI: C2316810
Disease: Chronic kidney disease stage 5
194 0.776 0.280 X 101403984 missense variant C/G snv 1.2E-04 1.9E-05 0.010 1.000 1 2012 2012
Chronic Kidney Diseases
CUI: C1561643
Disease: Chronic Kidney Diseases
306 0.776 0.280 X 101403984 missense variant C/G snv 1.2E-04 1.9E-05 0.010 1.000 1 2015 2015
Heart Diseases
CUI: C0018799
Disease: Heart Diseases
45 0.776 0.280 X 101403984 missense variant C/G snv 1.2E-04 1.9E-05 0.010 1.000 1 2012 2012
Hypertrophic Cardiomyopathy
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
635 0.776 0.280 X 101403984 missense variant C/G snv 1.2E-04 1.9E-05 0.010 1.000 1 2016 2016
Hypertrophic obstructive cardiomyopathy
90 0.776 0.280 X 101403984 missense variant C/G snv 1.2E-04 1.9E-05 0.010 1.000 1 2016 2016
Infarction, Lacunar
CUI: C0333559
Disease: Infarction, Lacunar
18 0.776 0.280 X 101403984 missense variant C/G snv 1.2E-04 1.9E-05 0.010 1.000 1 2014 2014
Kidney Diseases
CUI: C0022658
Disease: Kidney Diseases
140 0.776 0.280 X 101403984 missense variant C/G snv 1.2E-04 1.9E-05 0.010 1.000 1 2015 2015
Kidney Failure, Chronic
CUI: C0022661
Disease: Kidney Failure, Chronic
425 0.776 0.280 X 101403984 missense variant C/G snv 1.2E-04 1.9E-05 0.010 1.000 1 2012 2012