Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1050829
rs1050829
G6PD
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 		0.060 0.833 6 2005 2019
dbSNP: rs2230037
rs2230037
G6PD
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 		0.020 1.000 2 2008 2017
dbSNP: rs1050829
rs1050829
G6PD
0.827 0.160 X 154535277 missense variant T/A;C snv 1.7E-04; 2.6E-02
CUI: C0002871
Disease: Anemia
Anemia 		0.010 1.000 1 2014 2014
dbSNP: rs1050829
rs1050829
G6PD
0.827 0.160 X 154535277 missense variant T/A;C snv 1.7E-04; 2.6E-02
CUI: C0086543
Disease: Cataract
Cataract 		0.010 1.000 1 2013 2013
dbSNP: rs137852316
rs137852316
G6PD
0.925 0.120 X 154532676 missense variant C/T snv
CUI: C0472790
Disease: Chronic non-spherocytic hemolytic anemia
Chronic non-spherocytic hemolytic anemia 		0.010 1.000 1 1992 1992
dbSNP: rs137852320
rs137852320
G6PD
0.925 0.120 X 154532698 missense variant T/C snv
CUI: C0472790
Disease: Chronic non-spherocytic hemolytic anemia
Chronic non-spherocytic hemolytic anemia 		0.010 < 0.001 1 1994 1994
dbSNP: rs137852334
rs137852334
G6PD
0.925 0.120 X 154532695 missense variant G/A snv
CUI: C0017551
Disease: Gilbert Disease (disorder)
Gilbert Disease (disorder) 		0.010 1.000 1 2002 2002
dbSNP: rs137852335
rs137852335
G6PD
0.925 0.120 X 154532674 missense variant C/G snv
CUI: C0002881
Disease: Anemia, Hemolytic, Congenital
Anemia, Hemolytic, Congenital 		0.010 1.000 1 2018 2018
dbSNP: rs200111236
rs200111236
G6PD
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 		0.010 1.000 1 2002 2002
dbSNP: rs200111236
rs200111236
G6PD
0.882 0.200 X 154534463 missense variant G/A;C snv 2.8E-04; 5.5E-06
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 1.000 1 2002 2002
dbSNP: rs200111236
rs200111236
G6PD
0.882 0.200 X 154534463 missense variant G/A;C snv 2.8E-04; 5.5E-06
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 1.000 1 2002 2002
dbSNP: rs200111236
rs200111236
G6PD
0.882 0.200 X 154534463 missense variant G/A;C snv 2.8E-04; 5.5E-06
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.010 1.000 1 2002 2002
dbSNP: rs200111236
rs200111236
G6PD
0.882 0.200 X 154534463 missense variant G/A;C snv 2.8E-04; 5.5E-06
CUI: C0015702
Disease: Favism
Favism 		0.010 1.000 1 2002 2002
dbSNP: rs2230037
rs2230037
G6PD
0.925 0.160 X 154532439 synonymous variant A/G snv
CUI: C0015702
Disease: Favism
Favism 		0.010 1.000 1 2017 2017
dbSNP: rs387906470
rs387906470
G6PD
1.000 0.080 X 154532785 missense variant G/A snv
CUI: C0017551
Disease: Gilbert Disease (disorder)
Gilbert Disease (disorder) 		0.010 1.000 1 2002 2002
dbSNP: rs979416826
rs979416826
G6PD
1.000 0.040 X 154535247 missense variant G/A snv
CUI: C1387532
Disease: Chronic hemolytic anemia
Chronic hemolytic anemia 		0.010 1.000 1 2012 2012
dbSNP: rs370451233
rs370451233
G6PD
1.000 0.040 X 154535315 missense variant T/C snv 1.1E-05 1.9E-05
CUI: C0272087
Disease: Congenital Methemoglobinemia
Congenital Methemoglobinemia 		0.010 1.000 1 2008 2008
dbSNP: rs1193184183
rs1193184183
G6PD ; IKBKG
1.000 0.080 X 154546076 missense variant T/C snv 1.9E-05
CUI: C0002881
Disease: Anemia, Hemolytic, Congenital
Anemia, Hemolytic, Congenital 		0.010 1.000 1 2018 2018
dbSNP: rs137852314
rs137852314
G6PD
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 		0.030 1.000 3 2013 2017
dbSNP: rs137852314
rs137852314
G6PD
0.851 0.120 X 154534495 missense variant C/T snv 4.4E-05 5.7E-05
CUI: C0238644
Disease: Anemia, severe
Anemia, severe 		0.010 1.000 1 2017 2017
dbSNP: rs370918918
rs370918918
G6PD
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 		0.010 1.000 1 2010 2010
dbSNP: rs137852327
rs137852327
G6PD
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 		0.020 1.000 2 2013 2018
dbSNP: rs72554664
rs72554664
G6PD
0.882 0.160 X 154532257 missense variant C/T snv 5.5E-04 1.1E-04
CUI: C0857007
Disease: Hyperbilirubinemia, Neonatal
Hyperbilirubinemia, Neonatal 		0.010 1.000 1 2019 2019
dbSNP: rs78478128
rs78478128
G6PD
0.851 0.160 X 154536168 missense variant G/C snv 1.7E-04 1.1E-04
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 1.000 1 2002 2002
dbSNP: rs78478128
rs78478128
G6PD
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 		0.010 1.000 1 1995 1995