rs121917769, UMOD

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.
Hyperuricemic Nephropathy, Familial Juvenile 1
CUI: C4551496
Disease: Hyperuricemic Nephropathy, Familial Juvenile 1
18 0.925 0.240 16 20348925 missense variant A/G snv 0.800 1.000 14 2002 2015
Autosomal dominant tubulointerstitial kidney disease
CUI: C4511620
Disease: Autosomal dominant tubulointerstitial kidney disease
3 0.925 0.240 16 20348925 missense variant A/G snv 0.010 1.000 1 2017 2017