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: 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: 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: 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: 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: 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: 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: 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: 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: 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: rs1554917561
rs1554917561 		1.000 0.080 11 5225664 frameshift variant GTGGGGTG/- delins
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 6 1991 2014
dbSNP: rs33974936
rs33974936 		0.925 0.080 11 5226778 stop gained C/A;T snv
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 6 1986 2013
dbSNP: rs34889882
rs34889882 		0.882 0.080 11 5227004 frameshift variant AG/- del 7.0E-06
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 6 1989 2015
dbSNP: rs35497102
rs35497102 		0.882 0.080 11 5226996 frameshift variant TT/- del
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 6 1981 2014
dbSNP: rs36015961
rs36015961 		0.925 0.080 11 5225698 missense variant A/G snv
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 6 1981 2004
dbSNP: rs33969677
rs33969677 		0.925 0.080 11 5225714 missense variant C/A;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 5 1974 2013