rs1555014957, PC

N. diseases: 4
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.
Acidosis, Lactic
CUI: C0001125
Disease: Acidosis, Lactic
21 1.000 0.120 11 66850270 missense variant C/A snv 0.700 0
Increased serum lactate
CUI: C1836440
Disease: Increased serum lactate
2 1.000 0.120 11 66850270 missense variant C/A snv 0.700 0
Increased serum pyruvate
CUI: C1849488
Disease: Increased serum pyruvate
1 1.000 0.120 11 66850270 missense variant C/A snv 0.700 0
Pyruvate Carboxylase Deficiency Disease
CUI: C0034341
Disease: Pyruvate Carboxylase Deficiency Disease
33 1.000 0.120 11 66850270 missense variant C/A snv 0.700 0