HBA2, hemoglobin subunit alpha 2, 3040

N. diseases: 182; N. variants: 34
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: rs111033606
rs111033606 		16 173125 missense variant G/C;T;Y snv
CUI: C0349705
Disease: Abnormal hemoglobin finding
Abnormal hemoglobin finding 		0.700 0
dbSNP: rs121909803
rs121909803 		1.000 16 172913 start lost A/G snv
CUI: C3279561
Disease: HEMOGLOBIN H DISEASE, NONDELETIONAL
HEMOGLOBIN H DISEASE, NONDELETIONAL 		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: rs281864828
rs281864828 		1.000 16 173151 missense variant A/T snv
CUI: C4693823
Disease: ERYTHROCYTOSIS, FAMILIAL, 7
ERYTHROCYTOSIS, FAMILIAL, 7 		0.700 0
dbSNP: rs33983416
rs33983416 		1.000 16 173295 missense variant C/A;G;T snv
CUI: C4693823
Disease: ERYTHROCYTOSIS, FAMILIAL, 7
ERYTHROCYTOSIS, FAMILIAL, 7 		0.700 0
dbSNP: rs33985574
rs33985574 		1.000 16 173215 missense variant G/C;T snv
CUI: C4693823
Disease: ERYTHROCYTOSIS, FAMILIAL, 7
ERYTHROCYTOSIS, FAMILIAL, 7 		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: 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: rs41341344
rs41341344 		0.925 0.080 16 173001 missense variant T/C snv
CUI: C3279561
Disease: HEMOGLOBIN H DISEASE, NONDELETIONAL
HEMOGLOBIN H DISEASE, NONDELETIONAL 		0.700 0
dbSNP: rs41361546
rs41361546 		1.000 16 173589 missense variant A/G snv
CUI: C4693823
Disease: ERYTHROCYTOSIS, FAMILIAL, 7
ERYTHROCYTOSIS, FAMILIAL, 7 		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: rs41412046
rs41412046 		1.000 16 173600 stop lost A/T snv 8.0E-06
CUI: C3279561
Disease: HEMOGLOBIN H DISEASE, NONDELETIONAL
HEMOGLOBIN H DISEASE, NONDELETIONAL 		0.700 0
dbSNP: rs41417548
rs41417548 		1.000 16 173485 missense variant G/A;T snv 2.0E-05; 8.1E-06
CUI: C3279561
Disease: HEMOGLOBIN H DISEASE, NONDELETIONAL
HEMOGLOBIN H DISEASE, NONDELETIONAL 		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: rs41464951
rs41464951 		0.925 0.080 16 173598 stop lost T/A;C;G snv 5.6E-05
CUI: C3279561
Disease: HEMOGLOBIN H DISEASE, NONDELETIONAL
HEMOGLOBIN H DISEASE, NONDELETIONAL 		0.700 0
dbSNP: rs41469945
rs41469945 		0.925 0.080 16 173581 missense variant T/C;G snv
CUI: C0038002
Disease: Splenomegaly
Splenomegaly 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs41469945
rs41469945 		0.925 0.080 16 173581 missense variant T/C;G snv
CUI: C0002871
Disease: Anemia
Anemia 		Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs41469945
rs41469945 		0.925 0.080 16 173581 missense variant T/C;G snv
CUI: C0700299
Disease: Heinz Body Anemias
Heinz Body Anemias 		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: rs587776826
rs587776826 		1.000 0.080 16 173147 frameshift variant ACCAAGA/TACTTC delins
CUI: C0472762
Disease: Alpha trait thalassemia
Alpha trait thalassemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs587776827
rs587776827 		1.000 16 173471 splice acceptor variant G/A snv
CUI: C3279561
Disease: HEMOGLOBIN H DISEASE, NONDELETIONAL
HEMOGLOBIN H DISEASE, NONDELETIONAL 		0.700 0