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: rs33983276
rs33983276 		11 5225668 missense variant G/A;C;T snv
CUI: C0019045
Disease: Hemoglobinopathies
Hemoglobinopathies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 5 1969 2016
dbSNP: rs34563000
rs34563000 		11 5227021 start lost T/C snv
CUI: C0019045
Disease: Hemoglobinopathies
Hemoglobinopathies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 5 1991 2011
dbSNP: rs35619054
rs35619054 		11 5226745 frameshift variant -/AGAT delins 8.0E-06
CUI: C0019045
Disease: Hemoglobinopathies
Hemoglobinopathies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 4 1994 2013
dbSNP: rs63750513
rs63750513 		11 5226801 splice acceptor variant T/C;G snv 1.2E-05; 8.0E-06; 1.6E-05; 4.0E-06
CUI: C0019045
Disease: Hemoglobinopathies
Hemoglobinopathies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 3 2003 2017
dbSNP: rs1003586
rs1003586 		11 5228140 intron variant C/T snv 0.13
CUI: C0200695
Disease: Fetal hemoglobin determination
Fetal hemoglobin determination 		0.700 1.000 1 2008 2008
dbSNP: rs281865475
rs281865475 		11 5226657 frameshift variant G/- delins
CUI: C0019045
Disease: Hemoglobinopathies
Hemoglobinopathies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 1 2004 2004
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: 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: rs281864581
rs281864581 		11 5226941 missense variant C/A;G snv
CUI: C0019045
Disease: Hemoglobinopathies
Hemoglobinopathies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs33915112
rs33915112 		11 5226942 missense variant T/A;C;G snv
CUI: C4284047
Disease: HEMOGLOBIN AUBENAS PHENOTYPE
HEMOGLOBIN AUBENAS PHENOTYPE 		0.700 0
dbSNP: rs33940051
rs33940051 		11 5226645 missense variant T/C;G snv
CUI: C4284050
Disease: HEMOGLOBIN GAMBARA PHENOTYPE
HEMOGLOBIN GAMBARA PHENOTYPE 		0.700 0
dbSNP: rs33958358
rs33958358 		11 5227018 missense variant C/A;T snv 4.0E-06
CUI: C4310971
Disease: HB NIIGATA
HB NIIGATA 		0.700 0
dbSNP: rs33966761
rs33966761 		11 5225638 missense variant A/C;G;T snv 3.2E-05
CUI: C0019045
Disease: Hemoglobinopathies
Hemoglobinopathies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs33991472
rs33991472 		11 5226716 missense variant G/C;T snv
CUI: C0019045
Disease: Hemoglobinopathies
Hemoglobinopathies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs34083951
rs34083951 		11 5226613 missense variant G/A;C;T;Y snv 4.0E-06
CUI: C3889873
Disease: HEMOGLOBIN SAINT ETIENNE PHENOTYPE
HEMOGLOBIN SAINT ETIENNE PHENOTYPE 		0.700 0
dbSNP: rs34160180
rs34160180 		11 5226949 inframe deletion AAC/- delins
CUI: C0019045
Disease: Hemoglobinopathies
Hemoglobinopathies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs34165323
rs34165323 		11 5226693 missense variant T/C snv
CUI: C0019045
Disease: Hemoglobinopathies
Hemoglobinopathies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs35395625
rs35395625 		11 5226716 frameshift variant G/-;GG delins
CUI: C0019045
Disease: Hemoglobinopathies
Hemoglobinopathies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs35693898
rs35693898 		11 5226635 missense variant A/G snv
CUI: C0019045
Disease: Hemoglobinopathies
Hemoglobinopathies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
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: rs34598529
rs34598529 		0.724 0.280 11 5227100 5 prime UTR variant T/C snv 8.9E-04
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 11 1984 2015
dbSNP: rs334
rs334 		0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 9 1984 2012
dbSNP: rs334
rs334 		0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 7 1975 2013
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: rs334
rs334 		0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03
CUI: C0037054
Disease: Sickle Cell Trait
Sickle Cell Trait 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.030 1.000 3 2010 2016