HBB, hemoglobin subunit beta, 3043

N. diseases: 272; N. variants: 188
Source: ALL
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: rs334
rs334 		0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 2 2019 2019
dbSNP: rs334
rs334 		0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 2 2019 2019
dbSNP: rs334
rs334 		0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result) 		0.700 1.000 2 2017 2019
dbSNP: rs334
rs334 		0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.700 1.000 2 2019 2019
dbSNP: rs334
rs334 		0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03
CUI: C0011847
Disease: Diabetes
Diabetes 		Endocrine System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs334
rs334 		0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs334
rs334 		0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2019 2019
dbSNP: rs334
rs334 		0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2019 2019
dbSNP: rs334
rs334 		0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03
CUI: C0200637
Disease: Monocyte count procedure
Monocyte count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs334
rs334 		0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure) 		0.700 1.000 1 2019 2019
dbSNP: rs334
rs334 		0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		0.700 1.000 1 2019 2019
dbSNP: rs334
rs334 		0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03
CUI: C0200665
Disease: Platelet mean volume determination (procedure)
Platelet mean volume determination (procedure) 		0.700 1.000 1 2019 2019
dbSNP: rs334
rs334 		0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03
CUI: C0200641
Disease: Blood basophil count (lab test)
Blood basophil count (lab test) 		0.700 1.000 1 2019 2019
dbSNP: rs334
rs334 		0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03
CUI: C0200633
Disease: Neutrophil count (procedure)
Neutrophil count (procedure) 		0.700 1.000 1 2019 2019
dbSNP: rs334
rs334 		0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs334
rs334 		0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03
CUI: C0750880
Disease: Monocyte count result
Monocyte count result 		0.700 1.000 1 2019 2019
dbSNP: rs334
rs334 		0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs33924775
rs33924775 		0.925 0.040 11 5226615 missense variant G/A;C;T snv
CUI: C0272087
Disease: Congenital Methemoglobinemia
Congenital Methemoglobinemia 		Hemic and Lymphatic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs35424040
rs35424040 		0.827 0.080 11 5226940 missense variant C/A;G;T snv 1.2E-05
CUI: C0878521
Disease: Beta thalassemia trait
Beta thalassemia trait 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs334
rs334 		0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.850 1.000 12 1957 2018
dbSNP: rs334
rs334 		0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03
CUI: C0024530
Disease: Malaria
Malaria 		Infections 0.810 1.000 4 2009 2018
dbSNP: rs33950093
rs33950093 		11 5226958 missense variant C/A;G;T snv
CUI: C0019045
Disease: Hemoglobinopathies
Hemoglobinopathies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 2018 2018
dbSNP: rs33941849
rs33941849 		0.851 0.080 11 5227020 start lost A/C;G;T snv
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 21 1990 2017
dbSNP: rs33946267
rs33946267 		0.851 0.080 11 5225678 stop gained C/A;G;T snv 7.0E-04; 1.2E-05
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 21 1968 2017
dbSNP: rs33950507
rs33950507 		0.807 0.080 11 5226943 stop gained C/A;G;T snv 2.5E-04
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.810 1.000 17 1980 2017