rs121908525, AGXT

N. diseases: 7
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 0.790 0.160 2 240875159 missense variant T/C snv 4.4E-05 5.6E-05 0.860 1.000 29 1991 2015
Primary Hyperoxaluria
CUI: C0020501
Disease: Primary Hyperoxaluria
11 0.790 0.160 2 240875159 missense variant T/C snv 4.4E-05 5.6E-05 0.710 1.000 5 2000 2007
Nephrocalcinosis
CUI: C0027709
Disease: Nephrocalcinosis
20 0.790 0.160 2 240875159 missense variant T/C snv 4.4E-05 5.6E-05 0.700 1.000 1 2018 2018
Nephrolithiasis
CUI: C0392525
Disease: Nephrolithiasis
99 0.790 0.160 2 240875159 missense variant T/C snv 4.4E-05 5.6E-05 0.700 1.000 1 2018 2018
Chronic kidney disease stage 5
CUI: C2316810
Disease: Chronic kidney disease stage 5
194 0.790 0.160 2 240875159 missense variant T/C snv 4.4E-05 5.6E-05 0.010 1.000 1 2006 2006
Kidney Failure, Chronic
CUI: C0022661
Disease: Kidney Failure, Chronic
425 0.790 0.160 2 240875159 missense variant T/C snv 4.4E-05 5.6E-05 0.010 1.000 1 2006 2006
Primary hyperoxaluria type 2
CUI: C0268165
Disease: Primary hyperoxaluria type 2
55 0.790 0.160 2 240875159 missense variant T/C snv 4.4E-05 5.6E-05 0.010 1.000 1 2004 2004