G6PD, glucose-6-phosphate dehydrogenase, 2539

N. diseases: 344; N. variants: 24
Disease: Deficiency of glucose-6-phosphate dehydrogenase ×
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: rs5030868
rs5030868 		0.827 0.160 X 154534419 missense variant G/A snv 2.6E-03 4.8E-04
CUI: C2939465
Disease: Deficiency of glucose-6-phosphate dehydrogenase
Deficiency of glucose-6-phosphate dehydrogenase 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.720 1.000 2 1995 2014
dbSNP: rs1050828
rs1050828 		0.790 0.200 X 154536002 missense variant C/T snv 9.1E-03 3.6E-02
CUI: C2939465
Disease: Deficiency of glucose-6-phosphate dehydrogenase
Deficiency of glucose-6-phosphate dehydrogenase 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.080 0.875 8 1992 2014
dbSNP: rs1050829
rs1050829 		0.827 0.160 X 154535277 missense variant T/A;C snv 1.7E-04; 2.6E-02
CUI: C2939465
Disease: Deficiency of glucose-6-phosphate dehydrogenase
Deficiency of glucose-6-phosphate dehydrogenase 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.060 0.833 6 2005 2019
dbSNP: rs137852314
rs137852314 		0.851 0.120 X 154534495 missense variant C/T snv 4.4E-05 5.7E-05
CUI: C2939465
Disease: Deficiency of glucose-6-phosphate dehydrogenase
Deficiency of glucose-6-phosphate dehydrogenase 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.030 1.000 3 2013 2017
dbSNP: rs1050757
rs1050757 		0.925 0.160 X 154531643 3 prime UTR variant C/T snv 0.63
CUI: C2939465
Disease: Deficiency of glucose-6-phosphate dehydrogenase
Deficiency of glucose-6-phosphate dehydrogenase 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.020 1.000 2 2013 2017
dbSNP: rs137852327
rs137852327 		0.882 0.120 X 154533122 missense variant C/T snv 2.2E-04 9.4E-05
CUI: C2939465
Disease: Deficiency of glucose-6-phosphate dehydrogenase
Deficiency of glucose-6-phosphate dehydrogenase 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.020 1.000 2 2013 2018
dbSNP: rs2230037
rs2230037 		0.925 0.160 X 154532439 synonymous variant A/G snv
CUI: C2939465
Disease: Deficiency of glucose-6-phosphate dehydrogenase
Deficiency of glucose-6-phosphate dehydrogenase 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.020 1.000 2 2008 2017
dbSNP: rs398123546
rs398123546 		0.925 0.120 X 154532390 missense variant G/A snv 1.5E-04 1.5E-04
CUI: C2939465
Disease: Deficiency of glucose-6-phosphate dehydrogenase
Deficiency of glucose-6-phosphate dehydrogenase 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.020 1.000 2 1993 2013
dbSNP: rs145247580
rs145247580 		1.000 0.120 X 154534400 missense variant G/C snv 4.7E-04 6.2E-04
CUI: C2939465
Disease: Deficiency of glucose-6-phosphate dehydrogenase
Deficiency of glucose-6-phosphate dehydrogenase 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2018 2018
dbSNP: rs2071429
rs2071429 		0.925 0.160 X 154532293 intron variant G/A snv 0.63
CUI: C2939465
Disease: Deficiency of glucose-6-phosphate dehydrogenase
Deficiency of glucose-6-phosphate dehydrogenase 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs370918918
rs370918918 		1.000 0.120 X 154535176 missense variant C/G snv 9.7E-04 8.5E-05
CUI: C2939465
Disease: Deficiency of glucose-6-phosphate dehydrogenase
Deficiency of glucose-6-phosphate dehydrogenase 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2010 2010
dbSNP: rs5030872
rs5030872 		0.882 0.160 X 154534440 missense variant T/A snv 1.4E-04 4.7E-04
CUI: C2939465
Disease: Deficiency of glucose-6-phosphate dehydrogenase
Deficiency of glucose-6-phosphate dehydrogenase 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2016 2016
dbSNP: rs78478128
rs78478128 		0.851 0.160 X 154536168 missense variant G/C snv 1.7E-04 1.1E-04
CUI: C2939465
Disease: Deficiency of glucose-6-phosphate dehydrogenase
Deficiency of glucose-6-phosphate dehydrogenase 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 1995 1995