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.
Keratoconus
CUI: C0022578
Disease: Keratoconus
83 0.925 0.160 2 227256385 missense variant G/A;T snv 4.0E-06; 0.17 0.020 1.000 2 2017 2020
Diabetic Nephropathy
CUI: C0011881
Disease: Diabetic Nephropathy
238 0.925 0.160 2 227256385 missense variant G/A;T snv 4.0E-06; 0.17 0.010 1.000 1 2019 2019
Kidney Diseases
CUI: C0022658
Disease: Kidney Diseases
140 0.925 0.160 2 227256385 missense variant G/A;T snv 4.0E-06; 0.17 0.010 1.000 1 2019 2019