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: rs33913413
rs33913413
0.851 0.080 11 5225729 splice region variant G/A;C;T snv 1.2E-05; 4.0E-06
CUI: C0472767
Disease: Beta thalassemia intermedia
Beta thalassemia intermedia
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: C0472767
Disease: Beta thalassemia intermedia
Beta thalassemia intermedia
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: C0472767
Disease: Beta thalassemia intermedia
Beta thalassemia intermedia
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: rs34598529
rs34598529
0.724 0.280 11 5227100 5 prime UTR variant T/C snv 8.9E-04
CUI: C0472767
Disease: Beta thalassemia intermedia
Beta thalassemia intermedia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs34999973
rs34999973
0.882 0.080 11 5227161 5 prime UTR variant G/A;C snv 4.2E-05
CUI: C0472767
Disease: Beta thalassemia intermedia
Beta thalassemia intermedia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs36015961
rs36015961
0.925 0.080 11 5225698 missense variant A/G snv
CUI: C0472767
Disease: Beta thalassemia intermedia
Beta thalassemia intermedia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0