rs1569492161, COL4A5

N. diseases: 4
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 0.882 0.280 X 108586729 missense variant G/C snv 0.700 0
Microscopic hematuria
CUI: C0239937
Disease: Microscopic hematuria
4 0.882 0.280 X 108586729 missense variant G/C snv 0.700 0
Renal Insufficiency
CUI: C1565489
Disease: Renal Insufficiency
42 0.882 0.280 X 108586729 missense variant G/C snv 0.700 0
Sensorineural Hearing Loss (disorder)
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
111 0.882 0.280 X 108586729 missense variant G/C snv 0.700 0