rs104886116, 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 1, X-LINKED
CUI: C4746986
Disease: ALPORT SYNDROME 1, X-LINKED
450 0.882 0.160 X 108591635 missense variant G/A snv 0.700 1.000 21 1991 2014
Alport Syndrome
CUI: C1567741
Disease: Alport Syndrome
314 0.882 0.160 X 108591635 missense variant G/A snv 0.700 0
Alport Syndrome, X-Linked
CUI: C1567742
Disease: Alport Syndrome, X-Linked
8 0.882 0.160 X 108591635 missense variant G/A snv 0.010 1.000 1 2000 2000