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: rs11549407
rs11549407 		0.752 0.080 11 5226774 stop gained G/A;C;T snv 3.3E-04
CUI: C3841475
Disease: beta^+^ Thalassemia
beta^+^ Thalassemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 2000 2000
dbSNP: rs281864525
rs281864525 		0.851 0.280 11 5227097 5 prime UTR variant T/A;G snv 7.0E-06
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs281864525
rs281864525 		0.851 0.280 11 5227097 5 prime UTR variant T/A;G snv 7.0E-06
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2015 2015
dbSNP: rs281864525
rs281864525 		0.851 0.280 11 5227097 5 prime UTR variant T/A;G snv 7.0E-06
CUI: C0238033
Disease: Carcinoma of Male Breast
Carcinoma of Male Breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2015 2015
dbSNP: rs281864525
rs281864525 		0.851 0.280 11 5227097 5 prime UTR variant T/A;G snv 7.0E-06
CUI: C0242787
Disease: Malignant neoplasm of male breast
Malignant neoplasm of male breast 		Neoplasms; Skin and Connective Tissue Diseases; Endocrine System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs334
rs334 		0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03
CUI: C0040592
Disease: Trachoma
Trachoma 		Infections; Eye Diseases 0.010 1.000 1 2010 2010
dbSNP: rs334
rs334 		0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03
CUI: C0018790
Disease: Cardiac Arrest
Cardiac Arrest 		Cardiovascular Diseases 0.010 1.000 1 2016 2016
dbSNP: rs334
rs334 		0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03
CUI: C4321477
Disease: Sickle Cell-SS Disease
Sickle Cell-SS Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs334
rs334 		0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2017 2017
dbSNP: rs334
rs334 		0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03
CUI: C0039730
Disease: Thalassemia
Thalassemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 2007 2007
dbSNP: rs334
rs334 		0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03
CUI: C0343723
Disease: Neonatal chlamydial conjunctivitis
Neonatal chlamydial conjunctivitis 		Infections; Eye Diseases 0.010 1.000 1 2010 2010
dbSNP: rs334
rs334 		0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03
CUI: C0030193
Disease: Pain
Pain 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2011 2011
dbSNP: rs33917785
rs33917785 		1.000 0.040 11 5226617 missense variant A/C;G snv
CUI: C0002878
Disease: Anemia, Hemolytic
Anemia, Hemolytic 		Hemic and Lymphatic Diseases 0.010 1.000 1 1993 1993
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: rs33925391
rs33925391 		0.882 0.080 11 5225662 missense variant A/C;G;T snv 4.0E-06
CUI: C0002312
Disease: alpha-Thalassemia
alpha-Thalassemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 1992 1992
dbSNP: rs33925391
rs33925391 		0.882 0.080 11 5225662 missense variant A/C;G;T snv 4.0E-06
CUI: C0271979
Disease: Thalassemia Intermedia
Thalassemia Intermedia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 1992 1992
dbSNP: rs33926796
rs33926796 		1.000 0.040 11 5226767 missense variant A/C;G;T snv
CUI: C0002878
Disease: Anemia, Hemolytic
Anemia, Hemolytic 		Hemic and Lymphatic Diseases 0.010 1.000 1 2006 2006
dbSNP: rs33927093
rs33927093 		1.000 0.040 11 5225620 missense variant G/A;T snv
CUI: C0032461
Disease: Polycythemia
Polycythemia 		Hemic and Lymphatic Diseases 0.010 1.000 1 1995 1995
dbSNP: rs33929415
rs33929415 		11 5225612 missense variant G/A;C;T snv 4.0E-06
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 1998 1998
dbSNP: rs33930165
rs33930165 		0.882 0.120 11 5227003 missense variant C/G;T snv 9.2E-04; 4.4E-05
CUI: C0024530
Disease: Malaria
Malaria 		Infections 0.010 1.000 1 2011 2011
dbSNP: rs33931746
rs33931746 		0.807 0.280 11 5227099 5 prime UTR variant T/C;G snv
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2015 2015
dbSNP: rs33931746
rs33931746 		0.807 0.280 11 5227099 5 prime UTR variant T/C;G snv
CUI: C0242787
Disease: Malignant neoplasm of male breast
Malignant neoplasm of male breast 		Neoplasms; Skin and Connective Tissue Diseases; Endocrine System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs33931746
rs33931746 		0.807 0.280 11 5227099 5 prime UTR variant T/C;G snv
CUI: C0238033
Disease: Carcinoma of Male Breast
Carcinoma of Male Breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2015 2015
dbSNP: rs33935445
rs33935445 		0.925 0.080 11 5226978 missense variant A/C;G snv
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 1976 1976
dbSNP: rs33935445
rs33935445 		0.925 0.080 11 5226978 missense variant A/C;G snv
CUI: C3841475
Disease: beta^+^ Thalassemia
beta^+^ Thalassemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 1976 1976