GPI, glucose-6-phosphate isomerase, 2821

N. diseases: 218; N. variants: 33
Disease: Nonspherocytic hemolytic anemia ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs137853583
rs137853583 		0.827 0.080 19 34394044 missense variant G/A;T snv 1.2E-05; 4.0E-06
CUI: C4025735
Disease: Nonspherocytic hemolytic anemia
Nonspherocytic hemolytic anemia 		Hemic and Lymphatic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs2230294
rs2230294 		0.851 0.080 19 34393927 missense variant G/A;T snv 2.0E-04
CUI: C4025735
Disease: Nonspherocytic hemolytic anemia
Nonspherocytic hemolytic anemia 		Hemic and Lymphatic Diseases 0.010 1.000 1 2017 2017