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: 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: 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
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: rs33925391
rs33925391 		0.882 0.080 11 5225662 missense variant A/C;G;T snv 4.0E-06
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.800 1.000 13 1981 2013
dbSNP: rs11549407
rs11549407 		0.752 0.080 11 5226774 stop gained G/A;C;T snv 3.3E-04
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.710 1.000 11 1981 2015
dbSNP: rs33986703
rs33986703 		0.752 0.080 11 5226970 stop gained T/A;C;G snv 5.6E-05; 3.2E-05
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.710 1.000 10 1979 2015
dbSNP: rs36015961
rs36015961 		0.925 0.080 11 5225698 missense variant A/G snv
CUI: C0019045
Disease: Hemoglobinopathies
Hemoglobinopathies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.710 1.000 4 1994 2002
dbSNP: rs33950507
rs33950507 		0.807 0.080 11 5226943 stop gained C/A;G;T snv 2.5E-04
CUI: C3841475
Disease: beta^+^ Thalassemia
beta^+^ Thalassemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.710 1.000 1 2015 2015
dbSNP: rs63751208
rs63751208 		0.925 0.080 11 5227172 5 prime UTR variant G/A snv 5.6E-05
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 22 1989 2015
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: rs33915217
rs33915217 		0.752 0.080 11 5226925 splice region variant C/A;G;T snv 4.0E-06; 5.9E-04; 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 18 1983 2013
dbSNP: rs33960103
rs33960103 		0.882 0.080 11 5226930 missense variant C/G;T snv 1.0E-04; 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 18 1989 2016
dbSNP: rs193922555
rs193922555 		0.925 0.080 11 5226641 frameshift variant C/- delins
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 15 1989 2015
dbSNP: rs33944208
rs33944208 		0.752 0.080 11 5227159 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 15 1984 2017
dbSNP: rs33941377
rs33941377 		0.752 0.080 11 5227158 5 prime UTR 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 14 1986 2016
dbSNP: rs35724775
rs35724775 		0.763 0.080 11 5226924 splice region variant A/G;T snv 1.2E-04
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 14 1982 2015
dbSNP: rs80356821
rs80356821 		0.882 0.080 11 5226763 frameshift variant AGAA/- delins
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 14 1983 2015
dbSNP: rs33931746
rs33931746 		0.807 0.280 11 5227099 5 prime UTR variant T/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 13 1982 2014
dbSNP: rs35225141
rs35225141 		0.925 0.080 11 5225718 frameshift variant -/C delins 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 13 1987 2013
dbSNP: rs33944208
rs33944208 		0.752 0.080 11 5227159 5 prime UTR 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 11 1984 2017
dbSNP: rs33945777
rs33945777 		0.763 0.080 11 5226576 splice donor variant C/A;G;T snv 4.0E-05
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 11 1982 2015
dbSNP: rs33974936
rs33974936 		0.925 0.080 11 5226778 stop gained C/A;T snv
CUI: C0019045
Disease: Hemoglobinopathies
Hemoglobinopathies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 11 1986 2011
dbSNP: rs34527846
rs34527846 		1.000 0.080 11 5226802 splice region variant A/C;G;T snv 8.0E-06; 1.6E-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 11 1989 2015
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