rs151340628, CLCN5

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.
Low Molecular Weight Proteinuria with Hypercalciuria and Nephrocalcinosis
CUI: C1839874
Disease: Low Molecular Weight Proteinuria with Hypercalciuria and Nephrocalcinosis
4 0.925 0.120 X 50086362 missense variant G/A;C snv 1.1E-05 0.800 1.000 3 1997 2009
Dent's disease
CUI: C0878681
Disease: Dent's disease
12 0.925 0.120 X 50086362 missense variant G/A;C snv 1.1E-05 0.010 1.000 1 2009 2009