rs281874674, COL4A5

N. diseases: 8
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
CUI: C1567741
Disease: Alport Syndrome
314 0.827 0.280 X 108597479 missense variant G/C;T snv 0.700 0
ALPORT SYNDROME 1, X-LINKED
CUI: C4746986
Disease: ALPORT SYNDROME 1, X-LINKED
450 0.827 0.280 X 108597479 missense variant G/C;T snv 0.700 0
Hypertensive disease
CUI: C0020538
Disease: Hypertensive disease
1085 0.827 0.280 X 108597479 missense variant G/C;T snv 0.700 0
Lenticonus
CUI: C0239119
Disease: Lenticonus
1 0.827 0.280 X 108597479 missense variant G/C;T snv 0.700 0
Microscopic hematuria
CUI: C0239937
Disease: Microscopic hematuria
4 0.827 0.280 X 108597479 missense variant G/C;T snv 0.700 0
Proteinuria
CUI: C0033687
Disease: Proteinuria
20 0.827 0.280 X 108597479 missense variant G/C;T snv 0.700 0
Renal tubular disorder
CUI: C0151747
Disease: Renal tubular disorder
5 0.827 0.280 X 108597479 missense variant G/C;T snv 0.700 0
Sensorineural Hearing Loss (disorder)
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
111 0.827 0.280 X 108597479 missense variant G/C;T snv 0.700 0