rs104886142, COL4A5

N. diseases: 10
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.
Alport Syndrome, X-Linked
CUI: C1567742
Disease: Alport Syndrome, X-Linked
8 0.790 0.280 X 108598793 missense variant G/A snv 8.7E-05 4.7E-05 0.010 1.000 1 2007 2007
Andersen Syndrome
CUI: C1563715
Disease: Andersen Syndrome
38 0.790 0.280 X 108598793 missense variant G/A snv 8.7E-05 4.7E-05 0.010 1.000 1 2007 2007
ARTERIAL TORTUOSITY SYNDROME
CUI: C1859726
Disease: ARTERIAL TORTUOSITY SYNDROME
23 0.790 0.280 X 108598793 missense variant G/A snv 8.7E-05 4.7E-05 0.010 1.000 1 2007 2007
Familial hematuria
CUI: C1305904
Disease: Familial hematuria
7 0.790 0.280 X 108598793 missense variant G/A snv 8.7E-05 4.7E-05 0.010 1.000 1 2012 2012
Hematuria, Benign Familial
CUI: C0241908
Disease: Hematuria, Benign Familial
22 0.790 0.280 X 108598793 missense variant G/A snv 8.7E-05 4.7E-05 0.010 1.000 1 2007 2007
Thin basement membrane disease
CUI: C0403440
Disease: Thin basement membrane disease
9 0.790 0.280 X 108598793 missense variant G/A snv 8.7E-05 4.7E-05 0.010 1.000 1 2012 2012
Hypertensive disease
CUI: C0020538
Disease: Hypertensive disease
1085 0.790 0.280 X 108598793 missense variant G/A snv 8.7E-05 4.7E-05 0.700 0
Mild proteinuria
CUI: C4022832
Disease: Mild proteinuria
1 0.790 0.280 X 108598793 missense variant G/A snv 8.7E-05 4.7E-05 0.700 0
Renal glomerular disease
CUI: C0268731
Disease: Renal glomerular disease
7 0.790 0.280 X 108598793 missense variant G/A snv 8.7E-05 4.7E-05 0.700 0
ALPORT SYNDROME 1, X-LINKED
CUI: C4746986
Disease: ALPORT SYNDROME 1, X-LINKED
450 0.790 0.280 X 108598793 missense variant G/A snv 8.7E-05 4.7E-05 0.800 1.000 21 1991 2014