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: rs35949130
rs35949130 		1.000 0.080 11 5225484 3 prime UTR variant TTATT/- delins
CUI: C3841475
Disease: beta^+^ Thalassemia
beta^+^ Thalassemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs33985472
rs33985472 		0.925 0.080 11 5225485 3 prime UTR variant 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 2010
dbSNP: rs33985472
rs33985472 		0.925 0.080 11 5225485 3 prime UTR variant T/C snv
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 3 1990 2014
dbSNP: rs33985472
rs33985472 		0.925 0.080 11 5225485 3 prime UTR variant T/C snv
CUI: C3841475
Disease: beta^+^ Thalassemia
beta^+^ Thalassemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs63750954
rs63750954 		1.000 0.080 11 5225486 3 prime UTR variant T/A;C snv
CUI: C3841475
Disease: beta^+^ Thalassemia
beta^+^ Thalassemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs63751128
rs63751128 		0.925 0.080 11 5225487 3 prime UTR variant T/C snv 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 4 1990 2009
dbSNP: rs63750205
rs63750205 		1.000 0.080 11 5225487 3 prime UTR variant AT/- 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 2011
dbSNP: rs63751128
rs63751128 		0.925 0.080 11 5225487 3 prime UTR variant T/C snv 1.4E-05
CUI: C3841475
Disease: beta^+^ Thalassemia
beta^+^ Thalassemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs33978907
rs33978907 		0.851 0.080 11 5225488 3 prime UTR variant 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 3 1985 2012
dbSNP: rs33978907
rs33978907 		0.851 0.080 11 5225488 3 prime UTR variant A/G;T snv
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs33978907
rs33978907 		0.851 0.080 11 5225488 3 prime UTR variant A/G;T snv
CUI: C3841475
Disease: beta^+^ Thalassemia
beta^+^ Thalassemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs33978907
rs33978907 		0.851 0.080 11 5225488 3 prime UTR variant A/G;T snv
CUI: C0472767
Disease: Beta thalassemia intermedia
Beta thalassemia intermedia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs34809925
rs34809925 		1.000 0.080 11 5225592 3 prime UTR variant G/A;C;T snv 8.0E-06; 4.0E-06
CUI: C0019045
Disease: Hemoglobinopathies
Hemoglobinopathies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs34809925
rs34809925 		1.000 0.080 11 5225592 3 prime UTR variant G/A;C;T snv 8.0E-06; 4.0E-06
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs33954264
rs33954264 		1.000 11 5225602 missense variant T/A;C;G snv
CUI: C4693822
Disease: ERYTHROCYTOSIS, FAMILIAL, 6
ERYTHROCYTOSIS, FAMILIAL, 6 		0.700 0
dbSNP: rs33961444
rs33961444 		1.000 11 5225603 missense variant G/A;C snv
CUI: C4693822
Disease: ERYTHROCYTOSIS, FAMILIAL, 6
ERYTHROCYTOSIS, FAMILIAL, 6 		0.700 0
dbSNP: rs35291591
rs35291591 		1.000 11 5225604 stop gained A/T snv
CUI: C4693822
Disease: ERYTHROCYTOSIS, FAMILIAL, 6
ERYTHROCYTOSIS, FAMILIAL, 6 		0.700 0
dbSNP: rs35117167
rs35117167 		1.000 11 5225605 missense variant T/C snv
CUI: C4693822
Disease: ERYTHROCYTOSIS, FAMILIAL, 6
ERYTHROCYTOSIS, FAMILIAL, 6 		0.700 0
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: 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: rs35020585
rs35020585 		1.000 11 5225607 missense variant C/A;G;T snv 4.0E-06
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: 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: 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: rs33927093
rs33927093 		1.000 0.040 11 5225620 missense variant G/A;T snv
CUI: C0032461
Disease: Polycythemia
Polycythemia 		Hemic and Lymphatic Diseases 0.010 1.000 1 1995 1995