rs104886303, 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 1, X-LINKED
CUI: C4746986
Disease: ALPORT SYNDROME 1, X-LINKED
450 0.851 0.200 X 108695409 missense variant T/G snv 0.800 1.000 21 1991 2014
Alport Syndrome
CUI: C1567741
Disease: Alport Syndrome
314 0.851 0.200 X 108695409 missense variant T/G snv 0.010 1.000 1 1996 1996
Kidney Failure
CUI: C0035078
Disease: Kidney Failure
36 0.851 0.200 X 108695409 missense variant T/G snv 0.010 1.000 1 2013 2013
X-linked hydrocephalus syndrome
CUI: C0265216
Disease: X-linked hydrocephalus syndrome
24 0.851 0.200 X 108695409 missense variant T/G snv 0.010 1.000 1 2013 2013