G6PD, glucose-6-phosphate dehydrogenase, 2539

N. diseases: 344; N. variants: 24
Disease: Anemia, Hemolytic ×
Source: BEFREE ×
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: rs200111236
rs200111236 		0.882 0.200 X 154534463 missense variant G/A;C snv 2.8E-04; 5.5E-06
CUI: C0002878
Disease: Anemia, Hemolytic
Anemia, Hemolytic 		Hemic and Lymphatic Diseases 0.010 1.000 1 2002 2002
dbSNP: rs78478128
rs78478128 		0.851 0.160 X 154536168 missense variant G/C snv 1.7E-04 1.1E-04
CUI: C0002878
Disease: Anemia, Hemolytic
Anemia, Hemolytic 		Hemic and Lymphatic Diseases 0.010 1.000 1 2002 2002