HBB, hemoglobin subunit beta, 3043

N. diseases: 272; N. variants: 188
Disease: Thalassemia Intermedia ×
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: rs33925391
rs33925391 		0.882 0.080 11 5225662 missense variant A/C;G;T snv 4.0E-06
CUI: C0271979
Disease: Thalassemia Intermedia
Thalassemia Intermedia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 1992 1992
dbSNP: rs33972047
rs33972047 		0.851 0.080 11 5226963 missense variant T/C snv
CUI: C0271979
Disease: Thalassemia Intermedia
Thalassemia Intermedia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 1989 1989
dbSNP: rs34362537
rs34362537 		1.000 0.080 11 5226677 missense variant A/G snv
CUI: C0271979
Disease: Thalassemia Intermedia
Thalassemia Intermedia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 1994 1994
dbSNP: rs35802118
rs35802118 		0.925 0.080 11 5226967 missense variant C/A;T snv
CUI: C0271979
Disease: Thalassemia Intermedia
Thalassemia Intermedia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 1992 1992
dbSNP: rs63750022
rs63750022 		0.925 0.080 11 5225662 frameshift variant A/- del
CUI: C0271979
Disease: Thalassemia Intermedia
Thalassemia Intermedia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 1992 1992