HBB, hemoglobin subunit beta, 3043

N. diseases: 272; N. variants: 188
Disease: alpha-Thalassemia ×
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: rs11549407
rs11549407 		0.752 0.080 11 5226774 stop gained G/A;C;T snv 3.3E-04
CUI: C0002312
Disease: alpha-Thalassemia
alpha-Thalassemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs33915217
rs33915217 		0.752 0.080 11 5226925 splice region variant C/A;G;T snv 4.0E-06; 5.9E-04; 4.0E-06
CUI: C0002312
Disease: alpha-Thalassemia
alpha-Thalassemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs33941377
rs33941377 		0.752 0.080 11 5227158 5 prime UTR variant G/A;C;T snv
CUI: C0002312
Disease: alpha-Thalassemia
alpha-Thalassemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs33944208
rs33944208 		0.752 0.080 11 5227159 5 prime UTR variant G/A;C;T snv
CUI: C0002312
Disease: alpha-Thalassemia
alpha-Thalassemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs33945777
rs33945777 		0.763 0.080 11 5226576 splice donor variant C/A;G;T snv 4.0E-05
CUI: C0002312
Disease: alpha-Thalassemia
alpha-Thalassemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs33971440
rs33971440 		0.763 0.080 11 5226929 splice donor variant C/A;T snv 7.2E-05; 9.5E-05
CUI: C0002312
Disease: alpha-Thalassemia
alpha-Thalassemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs33986703
rs33986703 		0.752 0.080 11 5226970 stop gained T/A;C;G snv 5.6E-05; 3.2E-05
CUI: C0002312
Disease: alpha-Thalassemia
alpha-Thalassemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs34598529
rs34598529 		0.724 0.280 11 5227100 5 prime UTR variant T/C snv 8.9E-04
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: C0002312
Disease: alpha-Thalassemia
alpha-Thalassemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs35004220
rs35004220 		0.752 0.080 11 5226820 non coding transcript exon variant C/T snv 1.6E-04 9.1E-05
CUI: C0002312
Disease: alpha-Thalassemia
alpha-Thalassemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs35724775
rs35724775 		0.763 0.080 11 5226924 splice region variant A/G;T snv 1.2E-04
CUI: C0002312
Disease: alpha-Thalassemia
alpha-Thalassemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs33925391
rs33925391 		0.882 0.080 11 5225662 missense variant A/C;G;T snv 4.0E-06
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
dbSNP: rs35802118
rs35802118 		0.925 0.080 11 5226967 missense variant C/A;T snv
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
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