rs374583873, GPI

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.
HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY
CUI: C3150730
Disease: HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY
24 0.925 0.080 19 34399616 missense variant C/T snv 4.0E-06 0.700 0
Glucose phosphate isomerase deficiency
CUI: C0398561
Disease: Glucose phosphate isomerase deficiency
2 0.925 0.080 19 34399616 missense variant C/T snv 4.0E-06 0.010 1.000 1 2012 2012