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: rs41328049
rs41328049 		1.000 0.080 16 173207 missense variant G/A;C snv 3.0E-05
CUI: C1456873
Disease: alpha^+^ Thalassemia
alpha^+^ Thalassemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs41457746
rs41457746 		1.000 0.080 16 173123 splice acceptor variant A/G snv 3.7E-05
CUI: C1456873
Disease: alpha^+^ Thalassemia
alpha^+^ Thalassemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs63751457
rs63751457 		1.000 0.080 16 172981 synonymous variant C/T snv 3.7E-05
CUI: C1456873
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: C1456873
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: C1456873
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: C1456873
Disease: alpha^+^ Thalassemia
alpha^+^ Thalassemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 1990 1990