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.
Thin basement membrane disease
CUI: C0403440
Disease: Thin basement membrane disease
9 0.763 0.200 2 227253336 missense variant G/A;T snv 2.8E-05; 4.0E-06 0.020 1.000 2 2008 2012
Alport Syndrome
CUI: C1567741
Disease: Alport Syndrome
314 0.763 0.200 2 227253336 missense variant G/A;T snv 2.8E-05; 4.0E-06 0.010 1.000 1 2008 2008
Chronic kidney disease stage 5
CUI: C2316810
Disease: Chronic kidney disease stage 5
194 0.763 0.200 2 227253336 missense variant G/A;T snv 2.8E-05; 4.0E-06 0.010 1.000 1 2012 2012
Familial (FPAH)
CUI: C1611743
Disease: Familial (FPAH)
276 0.763 0.200 2 227253336 missense variant G/A;T snv 2.8E-05; 4.0E-06 0.010 1.000 1 2008 2008
Familial hematuria
CUI: C1305904
Disease: Familial hematuria
7 0.763 0.200 2 227253336 missense variant G/A;T snv 2.8E-05; 4.0E-06 0.010 1.000 1 2012 2012
Focal glomerulosclerosis
CUI: C0017668
Disease: Focal glomerulosclerosis
50 0.763 0.200 2 227253336 missense variant G/A;T snv 2.8E-05; 4.0E-06 0.010 1.000 1 2008 2008
Kidney Failure
CUI: C0035078
Disease: Kidney Failure
36 0.763 0.200 2 227253336 missense variant G/A;T snv 2.8E-05; 4.0E-06 0.010 1.000 1 2012 2012
Kidney Failure, Chronic
CUI: C0022661
Disease: Kidney Failure, Chronic
425 0.763 0.200 2 227253336 missense variant G/A;T snv 2.8E-05; 4.0E-06 0.010 1.000 1 2012 2012
Renal Insufficiency
CUI: C1565489
Disease: Renal Insufficiency
42 0.763 0.200 2 227253336 missense variant G/A;T snv 2.8E-05; 4.0E-06 0.010 1.000 1 2008 2008