rs121908529, AGXT

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.
Primary hyperoxaluria, type I
CUI: C0268164
Disease: Primary hyperoxaluria, type I
169 0.851 0.160 2 240871433 missense variant G/A;C snv 5.6E-04 0.850 1.000 31 1990 2019
Primary Hyperoxaluria
CUI: C0020501
Disease: Primary Hyperoxaluria
11 0.851 0.160 2 240871433 missense variant G/A;C snv 5.6E-04 0.710 1.000 7 1990 2014
Chronic kidney disease stage 5
CUI: C2316810
Disease: Chronic kidney disease stage 5
194 0.851 0.160 2 240871433 missense variant G/A;C snv 5.6E-04 0.010 1.000 1 2014 2014
Kidney Failure, Chronic
CUI: C0022661
Disease: Kidney Failure, Chronic
425 0.851 0.160 2 240871433 missense variant G/A;C snv 5.6E-04 0.010 1.000 1 2014 2014