rs180177161, 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.
Nephrocalcinosis
CUI: C0027709
Disease: Nephrocalcinosis
20 0.882 0.160 2 240878721 missense variant G/A;C snv 5.9E-06 0.700 1.000 1 2018 2018
Nephrolithiasis
CUI: C0392525
Disease: Nephrolithiasis
99 0.882 0.160 2 240878721 missense variant G/A;C snv 5.9E-06 0.700 1.000 1 2018 2018
Primary hyperoxaluria, type I
CUI: C0268164
Disease: Primary hyperoxaluria, type I
169 0.882 0.160 2 240878721 missense variant G/A;C snv 5.9E-06 0.700 1.000 5 2009 2017