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: rs33914668
rs33914668 		0.925 0.080 11 5225728 splice acceptor variant T/C;G snv 8.0E-06
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 10 1984 2013
dbSNP: rs33971440
rs33971440 		0.763 0.080 11 5226929 splice donor variant C/A;T snv 7.2E-05; 9.5E-05
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 10 1983 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: rs34704828
rs34704828 		1.000 0.080 11 5227050 5 prime UTR variant C/A;T snv 4.0E-06
CUI: C0019045
Disease: Hemoglobinopathies
Hemoglobinopathies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 9 1992 2010
dbSNP: rs35424040
rs35424040 		0.827 0.080 11 5226940 missense variant C/A;G;T snv 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 9 1982 2014
dbSNP: rs35662066
rs35662066 		0.925 0.080 11 5226971 frameshift variant G/- del
CUI: C0019045
Disease: Hemoglobinopathies
Hemoglobinopathies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 9 1984 2012
dbSNP: rs281864901
rs281864901 		0.925 0.080 11 5226662 frameshift variant G/- del
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 8 1988 2015
dbSNP: rs33941377
rs33941377 		0.752 0.080 11 5227158 5 prime UTR variant G/A;C;T snv
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 8 1988 2014
dbSNP: rs33946267
rs33946267 		0.851 0.080 11 5225678 stop gained C/A;G;T snv 7.0E-04; 1.2E-05
CUI: C1264000
Disease: Sickle cell-Hemoglobin O Arab disease
Sickle cell-Hemoglobin O Arab disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 8 1970 2014
dbSNP: rs33969853
rs33969853 		0.925 0.080 11 5226674 frameshift variant -/T delins
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 8 1984 2014
dbSNP: rs34999973
rs34999973 		0.882 0.080 11 5227161 5 prime UTR variant G/A;C snv 4.2E-05
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 8 1992 2009
dbSNP: rs35256489
rs35256489 		0.827 0.080 11 5225710 missense variant A/G snv 4.0E-06 2.1E-05
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 8 1987 2009
dbSNP: rs35424040
rs35424040 		0.827 0.080 11 5226940 missense variant C/A;G;T snv 1.2E-05
CUI: C0019045
Disease: Hemoglobinopathies
Hemoglobinopathies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 8 1984 2014
dbSNP: rs63749819
rs63749819 		0.882 0.080 11 5227002 frameshift variant T/- del 1.6E-05 2.1E-05
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 8 1983 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: rs33913413
rs33913413 		0.851 0.080 11 5225729 splice region variant G/A;C;T snv 1.2E-05; 4.0E-06
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 7 1988 2015
dbSNP: rs33930165
rs33930165 		0.882 0.120 11 5227003 missense variant C/G;T snv 9.2E-04; 4.4E-05
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 7 1982 2013
dbSNP: rs33933298
rs33933298 		1.000 0.080 11 5226597 missense variant C/A;T snv 4.0E-06
CUI: C0019045
Disease: Hemoglobinopathies
Hemoglobinopathies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 7 1972 2016
dbSNP: rs33950507
rs33950507 		0.807 0.080 11 5226943 stop gained C/A;G;T snv 2.5E-04
CUI: C0019045
Disease: Hemoglobinopathies
Hemoglobinopathies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 7 1990 2011
dbSNP: rs34305195
rs34305195 		1.000 0.080 11 5227071 5 prime UTR variant T/G snv 1.0E-04 1.4E-05
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 7 1987 2016
dbSNP: rs35328027
rs35328027 		1.000 0.080 11 5225872 intron variant A/C;G snv
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 7 1982 2012
dbSNP: rs35532010
rs35532010 		0.882 0.080 11 5226937 frameshift variant G/-;GG delins
CUI: C0019045
Disease: Hemoglobinopathies
Hemoglobinopathies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 7 1991 2014
dbSNP: rs35894115
rs35894115 		1.000 0.080 11 5226748 frameshift variant -/T delins 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 7 1961 2011
dbSNP: rs63749960
rs63749960 		1.000 0.080 11 5226976 frameshift variant A/- del
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 7 2003 2016
dbSNP: rs80356820
rs80356820 		0.925 0.080 11 5226757 frameshift variant G/- delins 1.6E-05
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 7 1981 2015