rs121964845, TPI1

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.
Enzymopathy
CUI: C0520572
Disease: Enzymopathy
1 1.000 0.120 12 6869174 missense variant G/C snv 7.6E-05 1.2E-04 0.010 1.000 1 2013 2013
Triosephosphate Isomerase Deficiency
9 1.000 0.120 12 6869174 missense variant G/C snv 7.6E-05 1.2E-04 0.820 1.000 17 1986 2017