rs281874657, COL4A5

N. diseases: 3
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 0.925 0.160 X 108586717 stop gained C/T snv 0.700 0
Renal Insufficiency
CUI: C1565489
Disease: Renal Insufficiency
42 0.925 0.160 X 108586717 stop gained C/T snv 0.010 1.000 1 2017 2017
Retinal Diseases
CUI: C0035309
Disease: Retinal Diseases
56 0.925 0.160 X 108586717 stop gained C/T snv 0.010 1.000 1 2017 2017