rs104886308, 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 0.160 X 108696350 missense variant G/A;C;T snv 2.2E-05 0.800 1.000 21 1991 2014
Alport Syndrome
CUI: C1567741
Disease: Alport Syndrome
314 0.851 0.160 X 108696350 missense variant G/A;C;T snv 2.2E-05 0.710 1.000 1 1997 1997
Hereditary nephritis
CUI: C0027706
Disease: Hereditary nephritis
1 0.851 0.160 X 108696350 missense variant G/A;C;T snv 2.2E-05 0.010 1.000 1 1997 1997
Nephritis
CUI: C0027697
Disease: Nephritis
40 0.851 0.160 X 108696350 missense variant G/A;C;T snv 2.2E-05 0.010 1.000 1 1997 1997