rs1050828, G6PD

N. diseases: 15
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Red Blood Cell Count measurement
CUI: C0014772
Disease: Red Blood Cell Count measurement
1599 0.790 0.200 X 154536002 missense variant C/T snv 9.1E-03 3.6E-02 0.700 1.000 3 2013 2017
Corpuscular Hemoglobin Concentration Mean
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
4389 0.790 0.200 X 154536002 missense variant C/T snv 9.1E-03 3.6E-02 0.700 1.000 2 2013 2013
Finding of Mean Corpuscular Hemoglobin
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
1206 0.790 0.200 X 154536002 missense variant C/T snv 9.1E-03 3.6E-02 0.700 1.000 2 2013 2017
Mean Corpuscular Volume (result)
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
549 0.790 0.200 X 154536002 missense variant C/T snv 9.1E-03 3.6E-02 0.700 1.000 2 2013 2017
RDW - Red blood cell distribution width result
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
988 0.790 0.200 X 154536002 missense variant C/T snv 9.1E-03 3.6E-02 0.700 1.000 2 2013 2017
Red cell distribution width determination
CUI: C0427460
Disease: Red cell distribution width determination
988 0.790 0.200 X 154536002 missense variant C/T snv 9.1E-03 3.6E-02 0.700 1.000 2 2013 2017
Transferrin saturation measurement
CUI: C1277709
Disease: Transferrin saturation measurement
36 0.790 0.200 X 154536002 missense variant C/T snv 9.1E-03 3.6E-02 0.700 1.000 1 2017 2017
ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY
CUI: C2720289
Disease: ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY
54 0.790 0.200 X 154536002 missense variant C/T snv 9.1E-03 3.6E-02 0.700 0
Deficiency of glucose-6-phosphate dehydrogenase
CUI: C2939465
Disease: Deficiency of glucose-6-phosphate dehydrogenase
20 0.790 0.200 X 154536002 missense variant C/T snv 9.1E-03 3.6E-02 0.080 0.875 8 1992 2014
Anemia
CUI: C0002871
Disease: Anemia
94 0.790 0.200 X 154536002 missense variant C/T snv 9.1E-03 3.6E-02 0.010 1.000 1 2014 2014
Anemia, Sickle Cell
CUI: C0002895
Disease: Anemia, Sickle Cell
138 0.790 0.200 X 154536002 missense variant C/T snv 9.1E-03 3.6E-02 0.010 1.000 1 2019 2019
Cataract
CUI: C0086543
Disease: Cataract
124 0.790 0.200 X 154536002 missense variant C/T snv 9.1E-03 3.6E-02 0.010 1.000 1 2013 2013
Diabetes
CUI: C0011847
Disease: Diabetes
710 0.790 0.200 X 154536002 missense variant C/T snv 9.1E-03 3.6E-02 0.010 1.000 1 2018 2018
Diabetes Mellitus
CUI: C0011849
Disease: Diabetes Mellitus
824 0.790 0.200 X 154536002 missense variant C/T snv 9.1E-03 3.6E-02 0.010 1.000 1 2018 2018
Hyperglycemia
CUI: C0020456
Disease: Hyperglycemia
108 0.790 0.200 X 154536002 missense variant C/T snv 9.1E-03 3.6E-02 0.010 1.000 1 2019 2019