rs121908524, AGXT

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.
Primary hyperoxaluria, type I
CUI: C0268164
Disease: Primary hyperoxaluria, type I
169 0.925 0.160 2 240871379 missense variant T/A snv 9.0E-05 1.5E-04 0.820 1.000 25 1991 2014
Primary Hyperoxaluria
CUI: C0020501
Disease: Primary Hyperoxaluria
11 0.925 0.160 2 240871379 missense variant T/A snv 9.0E-05 1.5E-04 0.700 1.000 2 2007 2012