HBA1, hemoglobin subunit alpha 1, 3039

N. diseases: 200; N. variants: 25
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: rs112128183
rs112128183 		16 176265 upstream gene variant G/C snv 4.3E-02
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2016 2016
dbSNP: rs112460909
rs112460909 		16 175065 upstream gene variant T/-;TT;TTT;TTTTTTT delins
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs148228241
rs148228241 		16 177188 non coding transcript exon variant G/T snv 1.9E-02
CUI: C1281911
Disease: Hemoglobin A measurement
Hemoglobin A measurement 		0.700 1.000 1 2019 2019
dbSNP: rs2858942
rs2858942 		16 175654 upstream gene variant A/C snv 0.76
CUI: C0518015
Disease: Hemoglobin measurement
Hemoglobin measurement 		0.700 1.000 1 2010 2010
dbSNP: rs2858942
rs2858942 		16 175654 upstream gene variant A/C snv 0.76
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2010 2010
dbSNP: rs1060339
rs1060339 		1.000 0.080 16 177040 missense variant C/A;G snv 2.9E-05
CUI: C0002312
Disease: alpha-Thalassemia
alpha-Thalassemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs28928878
rs28928878 		1.000 16 177012 missense variant G/A;T snv
CUI: C3279561
Disease: HEMOGLOBIN H DISEASE, NONDELETIONAL
HEMOGLOBIN H DISEASE, NONDELETIONAL 		0.700 0
dbSNP: rs33935328
rs33935328 		1.000 16 177407 missense variant G/A;C;T snv
CUI: C4693823
Disease: ERYTHROCYTOSIS, FAMILIAL, 7
ERYTHROCYTOSIS, FAMILIAL, 7 		0.700 0
dbSNP: rs33964317
rs33964317 		0.925 0.080 16 176759 missense variant T/A;C;Y snv 1.7E-04 1.4E-05
CUI: C4284348
Disease: HEMOGLOBIN EVANSTON PHENOTYPE
HEMOGLOBIN EVANSTON PHENOTYPE 		0.700 0
dbSNP: rs33978134
rs33978134 		1.000 16 176967 missense variant C/G;T snv
CUI: C4693823
Disease: ERYTHROCYTOSIS, FAMILIAL, 7
ERYTHROCYTOSIS, FAMILIAL, 7 		0.700 0
dbSNP: rs33986902
rs33986902 		1.000 16 176736 missense variant A/C;G;T snv
CUI: C4693823
Disease: ERYTHROCYTOSIS, FAMILIAL, 7
ERYTHROCYTOSIS, FAMILIAL, 7 		0.700 0
dbSNP: rs33991779
rs33991779 		1.000 16 177111 missense variant G/A;C;T snv
CUI: C4693823
Disease: ERYTHROCYTOSIS, FAMILIAL, 7
ERYTHROCYTOSIS, FAMILIAL, 7 		0.700 0
dbSNP: rs33991910
rs33991910 		1.000 16 177406 missense variant C/A;G;T snv
CUI: C4693823
Disease: ERYTHROCYTOSIS, FAMILIAL, 7
ERYTHROCYTOSIS, FAMILIAL, 7 		0.700 0
dbSNP: rs34635364
rs34635364 		1.000 0.080 16 177392 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: rs35239527
rs35239527 		1.000 16 177098 missense variant G/T snv
CUI: C4693823
Disease: ERYTHROCYTOSIS, FAMILIAL, 7
ERYTHROCYTOSIS, FAMILIAL, 7 		0.700 0
dbSNP: rs35672478
rs35672478 		1.000 16 177019 inframe deletion TGG/- delins
CUI: C3279561
Disease: HEMOGLOBIN H DISEASE, NONDELETIONAL
HEMOGLOBIN H DISEASE, NONDELETIONAL 		0.700 0
dbSNP: rs35723200
rs35723200 		1.000 16 177403 missense variant T/C snv
CUI: C4693823
Disease: ERYTHROCYTOSIS, FAMILIAL, 7
ERYTHROCYTOSIS, FAMILIAL, 7 		0.700 0
dbSNP: rs63750950
rs63750950 		1.000 16 177361 missense variant G/A;C;T snv
CUI: C4693823
Disease: ERYTHROCYTOSIS, FAMILIAL, 7
ERYTHROCYTOSIS, FAMILIAL, 7 		0.700 0
dbSNP: rs1195271113
rs1195271113 		1.000 0.080 16 176805 missense variant T/C snv
CUI: C0472762
Disease: Alpha trait thalassemia
Alpha trait thalassemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 1993 1993
dbSNP: rs1265843445
rs1265843445 		0.925 0.080 16 177311 missense variant T/G 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 1990 1990
dbSNP: rs1265843445
rs1265843445 		0.925 0.080 16 177311 missense variant T/G snv 4.0E-06
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
dbSNP: rs1283391088
rs1283391088 		0.882 0.120 16 176755 synonymous variant C/T snv 1.4E-05
CUI: C0271901
Disease: Microcytic hypochromic anemia (disorder)
Microcytic hypochromic anemia (disorder) 		Hemic and Lymphatic Diseases 0.010 1.000 1 1993 1993
dbSNP: rs1283391088
rs1283391088 		0.882 0.120 16 176755 synonymous variant C/T snv 1.4E-05
CUI: C0039730
Disease: Thalassemia
Thalassemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 1993 1993
dbSNP: rs1283391088
rs1283391088 		0.882 0.120 16 176755 synonymous variant C/T snv 1.4E-05
CUI: C0271979
Disease: Thalassemia Intermedia
Thalassemia Intermedia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 2009 2009
dbSNP: rs1283391088
rs1283391088 		0.882 0.120 16 176755 synonymous variant C/T snv 1.4E-05
CUI: C0014800
Disease: Erythroid hyperplasia
Erythroid hyperplasia 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 1993 1993