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: rs1554917888
rs1554917888 		1.000 0.080 11 5226675 frameshift variant -/A delins
CUI: C0271980
Disease: beta^0^ Thalassemia
beta^0^ Thalassemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs35477349
rs35477349 		1.000 0.080 11 5226942 frameshift variant -/A ins
CUI: C0271980
Disease: beta^0^ Thalassemia
beta^0^ Thalassemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
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: 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: rs35699606
rs35699606 		0.882 0.080 11 5226994 frameshift variant -/C delins 2.5E-04 6.3E-05
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 6 1984 2014
dbSNP: rs35383398
rs35383398 		1.000 0.080 11 5226976 frameshift variant -/C delins
CUI: C0019045
Disease: Hemoglobinopathies
Hemoglobinopathies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 4 1988 2014
dbSNP: rs1554918165
rs1554918165 		1.000 0.080 11 5226957 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 1 2011 2011
dbSNP: rs35225141
rs35225141 		0.925 0.080 11 5225718 frameshift variant -/C delins 1.4E-05
CUI: C0271980
Disease: beta^0^ Thalassemia
beta^0^ Thalassemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs35383398
rs35383398 		1.000 0.080 11 5226976 frameshift variant -/C delins
CUI: C0271980
Disease: beta^0^ Thalassemia
beta^0^ Thalassemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs35699606
rs35699606 		0.882 0.080 11 5226994 frameshift variant -/C delins 2.5E-04 6.3E-05
CUI: C0271980
Disease: beta^0^ Thalassemia
beta^0^ Thalassemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs35699606
rs35699606 		0.882 0.080 11 5226994 frameshift variant -/C delins 2.5E-04 6.3E-05
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs34533941
rs34533941 		1.000 0.080 11 5226608 frameshift variant -/CA delins
CUI: C0271980
Disease: beta^0^ Thalassemia
beta^0^ Thalassemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs35348864
rs35348864 		1.000 0.080 11 5226797 splice acceptor variant -/GCC delins
CUI: C4274391
Disease: Dominant beta-thalassemia
Dominant beta-thalassemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
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: 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: rs34937014
rs34937014 		1.000 0.080 11 5226604 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 3 1992 2014
dbSNP: rs33969853
rs33969853 		0.925 0.080 11 5226674 frameshift variant -/T delins
CUI: C0271980
Disease: beta^0^ Thalassemia
beta^0^ Thalassemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
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: rs34856846
rs34856846 		1.000 0.080 11 5226986 frameshift variant A/- delins 4.0E-06
CUI: C0019045
Disease: Hemoglobinopathies
Hemoglobinopathies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 4 1991 2017
dbSNP: rs1564874813
rs1564874813 		1.000 0.080 11 5226575 splice donor 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 3 2000 2011
dbSNP: rs63750532
rs63750532 		0.925 0.080 11 5226780 frameshift variant A/- delins
CUI: C0019045
Disease: Hemoglobinopathies
Hemoglobinopathies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 3 1991 1997
dbSNP: rs397509430
rs397509430 		0.882 0.200 11 5227101 5 prime UTR variant A/- del
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2015 2015
dbSNP: rs397509430
rs397509430 		0.882 0.200 11 5227101 5 prime UTR variant A/- del
CUI: C0242787
Disease: Malignant neoplasm of male breast
Malignant neoplasm of male breast 		Neoplasms; Skin and Connective Tissue Diseases; Endocrine System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs397509430
rs397509430 		0.882 0.200 11 5227101 5 prime UTR variant A/- del
CUI: C0238033
Disease: Carcinoma of Male Breast
Carcinoma of Male Breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2015 2015
dbSNP: rs63750022
rs63750022 		0.925 0.080 11 5225662 frameshift variant A/- del
CUI: C0002312
Disease: alpha-Thalassemia
alpha-Thalassemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 1992 1992