rs104886302, 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 0.925 0.160 X 108695376 missense variant G/A;C snv 0.700 1.000 1 2016 2016
Alport Syndrome
CUI: C1567741
Disease: Alport Syndrome
314 0.925 0.160 X 108695376 missense variant G/A;C snv 0.010 1.000 1 2007 2007
Eye Abnormalities
CUI: C0015393
Disease: Eye Abnormalities
3 0.925 0.160 X 108695376 missense variant G/A;C snv 0.010 1.000 1 2007 2007