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: rs33949869
rs33949869 		1.000 11 5225606 missense variant A/C;G;T snv
CUI: C0019045
Disease: Hemoglobinopathies
Hemoglobinopathies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 4 1975 1997
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: rs1141387
rs1141387 		1.000 11 5226789 missense variant C/A;G snv
CUI: C1527405
Disease: Erythrocytosis
Erythrocytosis 		Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1141387
rs1141387 		1.000 11 5226789 missense variant C/A;G snv
CUI: C4693822
Disease: ERYTHROCYTOSIS, FAMILIAL, 6
ERYTHROCYTOSIS, FAMILIAL, 6 		0.700 0
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: rs33910569
rs33910569 		1.000 11 5225659 missense variant T/C;G snv
CUI: C4016175
Disease: HEMOGLOBIN HOUSTON PHENOTYPE
HEMOGLOBIN HOUSTON PHENOTYPE 		0.700 0
dbSNP: rs33910569
rs33910569 		1.000 11 5225659 missense variant T/C;G snv
CUI: C4017525
Disease: BETA-PLUS-THALASSEMIA, DOMINANT
BETA-PLUS-THALASSEMIA, DOMINANT 		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: rs33917628
rs33917628 		1.000 11 5226623 missense variant C/G;T snv
CUI: C4693822
Disease: ERYTHROCYTOSIS, FAMILIAL, 6
ERYTHROCYTOSIS, FAMILIAL, 6 		0.700 0
dbSNP: rs33918338
rs33918338 		1.000 11 5225611 missense variant T/A;C;G snv 4.0E-06
CUI: C4693822
Disease: ERYTHROCYTOSIS, FAMILIAL, 6
ERYTHROCYTOSIS, FAMILIAL, 6 		0.700 0
dbSNP: rs33918343
rs33918343 		1.000 11 5226689 missense variant A/C;G;T snv
CUI: C4693797
Disease: METHEMOGLOBINEMIA, BETA TYPE
METHEMOGLOBINEMIA, BETA TYPE 		0.700 0
dbSNP: rs33921821
rs33921821 		1.000 11 5225614 missense variant G/A;T snv
CUI: C4693822
Disease: ERYTHROCYTOSIS, FAMILIAL, 6
ERYTHROCYTOSIS, FAMILIAL, 6 		0.700 0
dbSNP: rs33929459
rs33929459 		1.000 11 5226952 missense variant C/A;G;T snv 4.0E-06
CUI: C0019045
Disease: Hemoglobinopathies
Hemoglobinopathies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs33929459
rs33929459 		1.000 11 5226952 missense variant C/A;G;T snv 4.0E-06
CUI: C4693822
Disease: ERYTHROCYTOSIS, FAMILIAL, 6
ERYTHROCYTOSIS, FAMILIAL, 6 		0.700 0
dbSNP: rs33937393
rs33937393 		1.000 11 5226587 missense variant T/C;G snv
CUI: C4693822
Disease: ERYTHROCYTOSIS, FAMILIAL, 6
ERYTHROCYTOSIS, FAMILIAL, 6 		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: rs33949869
rs33949869 		1.000 11 5225606 missense variant A/C;G;T snv
CUI: C4693822
Disease: ERYTHROCYTOSIS, FAMILIAL, 6
ERYTHROCYTOSIS, FAMILIAL, 6 		0.700 0
dbSNP: rs33951978
rs33951978 		1.000 11 5226599 missense variant T/A;G snv
CUI: C4693822
Disease: ERYTHROCYTOSIS, FAMILIAL, 6
ERYTHROCYTOSIS, FAMILIAL, 6 		0.700 0