HBA2, hemoglobin subunit alpha 2, 3040

N. diseases: 182; N. variants: 34
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: rs41464951
rs41464951 		0.925 0.080 16 173598 stop lost T/A;C;G snv 5.6E-05
CUI: C0002312
Disease: alpha-Thalassemia
alpha-Thalassemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 7 1971 2010
dbSNP: rs1057519637
rs1057519637 		1.000 0.080 16 173003 frameshift variant AG/- delins
CUI: C0002312
Disease: alpha-Thalassemia
alpha-Thalassemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs111033601
rs111033601 		1.000 0.080 16 173236 missense variant C/A;G;R snv
CUI: C0002312
Disease: alpha-Thalassemia
alpha-Thalassemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs111033603
rs111033603 		1.000 0.080 16 172914 start lost T/C snv
CUI: C0002312
Disease: alpha-Thalassemia
alpha-Thalassemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs281864819
rs281864819 		1.000 0.080 16 172982 stop gained 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: rs33987053
rs33987053 		1.000 0.080 16 173520 stop gained G/A;C;T snv 4.0E-06; 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: rs41397847
rs41397847 		1.000 0.080 16 173548 missense variant T/A;C;G snv 5.6E-05; 8.0E-06
CUI: C0002312
Disease: alpha-Thalassemia
alpha-Thalassemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs41474145
rs41474145 		1.000 0.080 16 173005 splice donor variant TGAGG/- delins
CUI: C0002312
Disease: alpha-Thalassemia
alpha-Thalassemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs63751269
rs63751269 		1.000 0.080 16 173694 3 prime UTR variant A/C;G snv
CUI: C0002312
Disease: alpha-Thalassemia
alpha-Thalassemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs281864810
rs281864810 		0.925 0.080 16 172955 missense variant T/A;C snv
CUI: C0002312
Disease: alpha-Thalassemia
alpha-Thalassemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 1984 1984
dbSNP: rs281864855
rs281864855 		0.925 0.080 16 173246 missense variant C/G;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 1979 1979
dbSNP: rs41479844
rs41479844 		0.925 0.080 16 173500 missense variant T/G snv
CUI: C0002312
Disease: alpha-Thalassemia
alpha-Thalassemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 1990 1990