HBA1, hemoglobin subunit alpha 1, 3039

N. diseases: 200; N. variants: 25
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs148228241
rs148228241
Entrez Id: 3039
Gene Symbol: HBA1
HBA1
CUI: C1281911
Disease:
Hemoglobin A measurement 		G 0.700 GeneticVariation GWASCAT Uganda Genome Resource Enables Insights into Population History and Genomic Discovery in Africa. 31675503 2019
dbSNP: rs112460909
rs112460909
Entrez Id: 3039
Gene Symbol: HBA1
HBA1
CUI: C2985280
Disease:
Blood Protein Measurement 		CT 0.700 GeneticVariation GWASCAT Genomic atlas of the human plasma proteome. 29875488 2018
dbSNP: rs112128183
rs112128183
Entrez Id: 3039
Gene Symbol: HBA1
HBA1
CUI: C1261502
Disease:
Finding of Mean Corpuscular Hemoglobin 		C 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs2858942
rs2858942
Entrez Id: 3039
Gene Symbol: HBA1
HBA1
CUI: C0518015
Disease:
Hemoglobin measurement 		A 0.700 GeneticVariation GWASCAT Genome-wide association study of hematological and biochemical traits in a Japanese population. 20139978 2010
dbSNP: rs2858942
rs2858942
Entrez Id: 3039
Gene Symbol: HBA1
HBA1
CUI: C1261502
Disease:
Finding of Mean Corpuscular Hemoglobin 		A 0.700 GeneticVariation GWASCAT Genome-wide association study of hematological and biochemical traits in a Japanese population. 20139978 2010
dbSNP: rs1060339
rs1060339
Entrez Id: 3039
Gene Symbol: HBA1
HBA1
CUI: C0002312
Disease:
alpha-Thalassemia 		A 0.700 CausalMutation CLINVAR
dbSNP: rs28928878
rs28928878
Entrez Id: 3039
Gene Symbol: HBA1
HBA1
CUI: C3279561
Disease:
HEMOGLOBIN H DISEASE, NONDELETIONAL 		A 0.700 CausalMutation CLINVAR
dbSNP: rs33935328
rs33935328
Entrez Id: 3039
Gene Symbol: HBA1
HBA1
CUI: C4693823
Disease:
ERYTHROCYTOSIS, FAMILIAL, 7 		A 0.700 CausalMutation CLINVAR
dbSNP: rs33935328
rs33935328
Entrez Id: 3039
Gene Symbol: HBA1
HBA1
CUI: C4693823
Disease:
ERYTHROCYTOSIS, FAMILIAL, 7 		T 0.700 CausalMutation CLINVAR
dbSNP: rs33964317
rs33964317
Entrez Id: 3039
Gene Symbol: HBA1
HBA1
CUI: C4284348
Disease:
HEMOGLOBIN EVANSTON PHENOTYPE 		Y 0.700 CausalMutation CLINVAR
dbSNP: rs33978134
rs33978134
Entrez Id: 3039
Gene Symbol: HBA1
HBA1
CUI: C4693823
Disease:
ERYTHROCYTOSIS, FAMILIAL, 7 		T 0.700 CausalMutation CLINVAR
dbSNP: rs33986902
rs33986902
Entrez Id: 3039
Gene Symbol: HBA1
HBA1
CUI: C4693823
Disease:
ERYTHROCYTOSIS, FAMILIAL, 7 		G 0.700 CausalMutation CLINVAR
dbSNP: rs33991779
rs33991779
Entrez Id: 3039
Gene Symbol: HBA1
HBA1
CUI: C4693823
Disease:
ERYTHROCYTOSIS, FAMILIAL, 7 		T 0.700 CausalMutation CLINVAR
dbSNP: rs33991779
rs33991779
Entrez Id: 3039
Gene Symbol: HBA1
HBA1
CUI: C4693823
Disease:
ERYTHROCYTOSIS, FAMILIAL, 7 		A 0.700 CausalMutation CLINVAR
dbSNP: rs33991910
rs33991910
Entrez Id: 3039
Gene Symbol: HBA1
HBA1
CUI: C4693823
Disease:
ERYTHROCYTOSIS, FAMILIAL, 7 		T 0.700 CausalMutation CLINVAR
dbSNP: rs34635364
rs34635364
Entrez Id: 3039
Gene Symbol: HBA1
HBA1
CUI: C0700299
Disease:
Heinz Body Anemias 		G 0.700 CausalMutation CLINVAR
dbSNP: rs35239527
rs35239527
Entrez Id: 3039
Gene Symbol: HBA1
HBA1
CUI: C4693823
Disease:
ERYTHROCYTOSIS, FAMILIAL, 7 		T 0.700 CausalMutation CLINVAR
dbSNP: rs35672478
rs35672478
Entrez Id: 3039
Gene Symbol: HBA1
HBA1
CUI: C3279561
Disease:
HEMOGLOBIN H DISEASE, NONDELETIONAL 		A 0.700 CausalMutation CLINVAR
dbSNP: rs35723200
rs35723200
Entrez Id: 3039
Gene Symbol: HBA1
HBA1
CUI: C4693823
Disease:
ERYTHROCYTOSIS, FAMILIAL, 7 		C 0.700 CausalMutation CLINVAR
dbSNP: rs63750950
rs63750950
Entrez Id: 3039
Gene Symbol: HBA1
HBA1
CUI: C4693823
Disease:
ERYTHROCYTOSIS, FAMILIAL, 7 		C 0.700 CausalMutation CLINVAR
dbSNP: rs34324664
rs34324664
Entrez Id: 3039
Gene Symbol: HBA1
HBA1
CUI: C0019045
Disease:
Hemoglobinopathies 		0.010 GeneticVariation BEFREE Haemoglobin Fontainebleau (HBA2: c. 64G>C) in Oman: molecular and haematological characteristics and interaction with various haemoglobinopathies. 28784617 2018
dbSNP: rs387906544
rs387906544
Entrez Id: 3039
Gene Symbol: HBA1
HBA1
CUI: C0039730
Disease:
Thalassemia 		0.010 GeneticVariation BEFREE HbE, the result of a G to A mutation in codon 26 of the HBB (β-globin) gene, activates a cryptic 5' splice site in codon 25 leading to a reduction of correctly spliced β(E) -globin (HBB:c.79G>A) mRNA and consequently β(+) -thalassaemia. 21732929 2011
dbSNP: rs1283391088
rs1283391088
Entrez Id: 3039
Gene Symbol: HBA1
HBA1
CUI: C0271979
Disease:
Thalassemia Intermedia 		0.010 GeneticVariation BEFREE Ten patients with thalassemia intermedia with variable severity and apparent simple heterozygosis for beta0 39 C>T nonsense mutation were submitted to clinical, hematologic and molecular studies. 19794088 2009
dbSNP: rs1195271113
rs1195271113
Entrez Id: 3039
Gene Symbol: HBA1
HBA1
CUI: C0472762
Disease:
Alpha trait thalassemia 		0.010 GeneticVariation BEFREE Although this mutation would be expected to produce an unstable haemoglobin and hence a haemolytic anaemia, simple heterozygotes for the alpha 29Leu-->Pro mutation have the phenotype of alpha-thalassaemia trait. 8136277 1993
dbSNP: rs1283391088
rs1283391088
Entrez Id: 3039
Gene Symbol: HBA1
HBA1
CUI: C0039730
Disease:
Thalassemia 		0.010 GeneticVariation BEFREE These signs correspond to her marked hypochromic, microcytic anemia with erythroid hyperplasia of the bone marrow. beta-Globin genotyping shows here to be compound heterozygous for the codon 39 C-->T beta zero-nonsense mutation and for the T-->C beta(+)-mutation at position 6 of the splice consensus at the exon 1/intron 1 junction (CD39 C-->T/IVS1-6 T-->C). alpha-Globin gene mapping demonstrates the presence of a 3.7-kb alpha (+)-thalassemia deletion on one allele (-alpha 3.7/alpha alpha). 8431522 1993