rs1569504068, COL4A5

N. diseases: 2
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 1.000 X 108655388 frameshift variant G/- del 0.700 0
Nephrotic Syndrome
CUI: C0027726
Disease: Nephrotic Syndrome
45 1.000 X 108655388 frameshift variant G/- del 0.700 0