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: 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: rs34451549
rs34451549 		0.851 0.080 11 5225923 intron variant G/A snv 4.9E-05
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 5 1984 2013
dbSNP: rs34690599
rs34690599 		0.763 0.080 11 5225832 intron variant G/C snv 2.8E-05
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 2 1983 2001
dbSNP: rs1003586
rs1003586 		11 5228140 intron variant C/T snv 0.13
CUI: C0200695
Disease: Fetal hemoglobin determination
Fetal hemoglobin determination 		0.700 1.000 1 2008 2008
dbSNP: rs34451549
rs34451549 		0.851 0.080 11 5225923 intron variant G/A snv 4.9E-05
CUI: C0002875
Disease: Cooley's anemia
Cooley's anemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs34451549
rs34451549 		0.851 0.080 11 5225923 intron variant G/A snv 4.9E-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: rs34451549
rs34451549 		0.851 0.080 11 5225923 intron variant G/A snv 4.9E-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: rs34690599
rs34690599 		0.763 0.080 11 5225832 intron variant G/C snv 2.8E-05
CUI: C4693797
Disease: METHEMOGLOBINEMIA, BETA TYPE
METHEMOGLOBINEMIA, BETA TYPE 		0.700 0
dbSNP: rs34690599
rs34690599 		0.763 0.080 11 5225832 intron variant G/C snv 2.8E-05
CUI: C3841475
Disease: beta^+^ Thalassemia
beta^+^ Thalassemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs34690599
rs34690599 		0.763 0.080 11 5225832 intron variant G/C snv 2.8E-05
CUI: C0700299
Disease: Heinz Body Anemias
Heinz Body Anemias 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs34690599
rs34690599 		0.763 0.080 11 5225832 intron variant G/C snv 2.8E-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: rs34690599
rs34690599 		0.763 0.080 11 5225832 intron variant G/C snv 2.8E-05
CUI: C1970028
Disease: MALARIA, SUSCEPTIBILITY TO (finding)
MALARIA, SUSCEPTIBILITY TO (finding) 		0.700 0
dbSNP: rs34690599
rs34690599 		0.763 0.080 11 5225832 intron variant G/C snv 2.8E-05
CUI: C0002312
Disease: alpha-Thalassemia
alpha-Thalassemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs34690599
rs34690599 		0.763 0.080 11 5225832 intron variant G/C snv 2.8E-05
CUI: C1858990
Disease: Beta Thalassemia, Dominant Inclusion Body Type
Beta Thalassemia, Dominant Inclusion Body Type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs34690599
rs34690599 		0.763 0.080 11 5225832 intron variant G/C snv 2.8E-05
CUI: C1841621
Disease: FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1
FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1 		0.700 0
dbSNP: rs34690599
rs34690599 		0.763 0.080 11 5225832 intron variant G/C snv 2.8E-05
CUI: C4693822
Disease: ERYTHROCYTOSIS, FAMILIAL, 6
ERYTHROCYTOSIS, FAMILIAL, 6 		0.700 0
dbSNP: rs35703285
rs35703285 		1.000 0.080 11 5225740 intron variant A/C snv
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
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: 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: 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: 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: 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: 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: 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: 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