rs121908523, AGXT

N. diseases: 3
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 0.882 0.160 2 240868986 missense variant G/A snv 1.2E-05 4.2E-05 0.800 1.000 20 1991 2014
Nephrocalcinosis
CUI: C0027709
Disease: Nephrocalcinosis
20 0.882 0.160 2 240868986 missense variant G/A snv 1.2E-05 4.2E-05 0.700 1.000 1 2018 2018
Nephrolithiasis
CUI: C0392525
Disease: Nephrolithiasis
99 0.882 0.160 2 240868986 missense variant G/A snv 1.2E-05 4.2E-05 0.700 1.000 1 2018 2018