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
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: rs137852328
rs137852328
0.925 0.120 X 154534125 missense variant C/A;T snv 5.5E-06; 4.9E-05
Deficiency of glucose-6-phosphate dehydrogenase
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs2515904
rs2515904
1.000 0.120 X 154534556 intron variant G/C snv 4.6E-02
Deficiency of glucose-6-phosphate dehydrogenase
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs76723693
rs76723693
0.882 0.160 X 154533025 missense variant A/G snv 5.3E-04 1.5E-03
Deficiency of glucose-6-phosphate dehydrogenase
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1050828
rs1050828
0.790 0.200 X 154536002 missense variant C/T snv 9.1E-03 3.6E-02
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
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
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
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
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
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
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
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
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
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
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
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