HBE1, hemoglobin subunit epsilon 1, 3046

N. diseases: 41; N. variants: 29
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs372091
rs372091
Entrez Id: 3046;3048;282763
Gene Symbol: HBE1;HBG2;OR51B5
HBE1;HBG2;OR51B5
CUI: C0024530
Disease:
Malaria 		C 0.800 GeneticVariation GWASDB Genome-wide association study indicates two novel resistance loci for severe malaria. 22895189 2012
dbSNP: rs372091
rs372091
Entrez Id: 3046;3048;282763
Gene Symbol: HBE1;HBG2;OR51B5
HBE1;HBG2;OR51B5
CUI: C0024530
Disease:
Malaria 		C 0.800 GeneticVariation GWASCAT Genome-wide association study indicates two novel resistance loci for severe malaria. 22895189 2012
dbSNP: rs5006884
rs5006884
Entrez Id: 3046;3048;282763;390058
Gene Symbol: HBE1;HBG2;OR51B5;OR51B6
HBE1;HBG2;OR51B5;OR51B6
CUI: C0200695
Disease:
Fetal hemoglobin determination 		0.800 GeneticVariation GWASDB Meta-analysis of 2040 sickle cell anemia patients: BCL11A and HBS1L-MYB are the major modifiers of HbF in African Americans. 22936743 2012
dbSNP: rs4910742
rs4910742
Entrez Id: 3046;3048
Gene Symbol: HBE1;HBG2
HBE1;HBG2
CUI: C0200695
Disease:
Fetal hemoglobin determination 		0.800 GeneticVariation GWASDB Genome-wide association study identifies genetic variants influencing F-cell levels in sickle-cell patients. 21326311 2011
dbSNP: rs5006884
rs5006884
Entrez Id: 3046;3048;282763;390058
Gene Symbol: HBE1;HBG2;OR51B5;OR51B6
HBE1;HBG2;OR51B5;OR51B6
CUI: C0200695
Disease:
Fetal hemoglobin determination 		0.800 GeneticVariation GWASDB Genome-wide association study identifies genetic variants influencing F-cell levels in sickle-cell patients. 21326311 2011
dbSNP: rs5006884
rs5006884
Entrez Id: 3046;3048;282763;390058
Gene Symbol: HBE1;HBG2;OR51B5;OR51B6
HBE1;HBG2;OR51B5;OR51B6
CUI: C0200695
Disease:
Fetal hemoglobin determination 		0.800 GeneticVariation GWASDB Fetal hemoglobin in sickle cell anemia: genome-wide association studies suggest a regulatory region in the 5' olfactory receptor gene cluster. 20018918 2010
dbSNP: rs5006884
rs5006884
Entrez Id: 3046;3048;282763;390058
Gene Symbol: HBE1;HBG2;OR51B5;OR51B6
HBE1;HBG2;OR51B5;OR51B6
CUI: C0200695
Disease:
Fetal hemoglobin determination 		A 0.800 GeneticVariation GWASCAT Fetal hemoglobin in sickle cell anemia: genome-wide association studies suggest a regulatory region in the 5' olfactory receptor gene cluster. 20018918 2010
dbSNP: rs4910742
rs4910742
Entrez Id: 3046;3048
Gene Symbol: HBE1;HBG2
HBE1;HBG2
CUI: C0200695
Disease:
Fetal hemoglobin determination 		A 0.800 GeneticVariation GWASDB Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia. 18245381 2008
dbSNP: rs4910742
rs4910742
Entrez Id: 3046;3048
Gene Symbol: HBE1;HBG2
HBE1;HBG2
CUI: C0200695
Disease:
Fetal hemoglobin determination 		A 0.800 GeneticVariation GWASCAT Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia. 18245381 2008
dbSNP: rs2213169
rs2213169
Entrez Id: 3046;3048
Gene Symbol: HBE1;HBG2
HBE1;HBG2
CUI: C4528257
Disease:
Corpuscular Hemoglobin Concentration Mean 		0.700 GeneticVariation GWASCAT Genetic analyses of diverse populations improves discovery for complex traits. 31217584 2019
dbSNP: rs6578598
rs6578598
Entrez Id: 3046;3048
Gene Symbol: HBE1;HBG2
HBE1;HBG2
CUI: C1261502
Disease:
Finding of Mean Corpuscular Hemoglobin 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs12295181
rs12295181
Entrez Id: 3046;3048
Gene Symbol: HBE1;HBG2
HBE1;HBG2
CUI: C1285654
Disease:
Memory performance 		T 0.700 GeneticVariation GWASCAT Genome-wide association study of Alzheimer's disease endophenotypes at prediagnosis stages. 29274321 2018
dbSNP: rs7482428
rs7482428
Entrez Id: 3046;3048;282763
Gene Symbol: HBE1;HBG2;OR51B5
HBE1;HBG2;OR51B5
CUI: C3158111
Disease:
response to SSRI 		0.700 GeneticVariation GWASCAT New insights into the pharmacogenomics of antidepressant response from the GENDEP and STAR*D studies: rare variant analysis and high-density imputation. 29160301 2018
dbSNP: rs557129696
rs557129696
Entrez Id: 3046;3048;282763
Gene Symbol: HBE1;HBG2;OR51B5
HBE1;HBG2;OR51B5
CUI: C0518015
Disease:
Hemoglobin measurement 		G 0.700 GeneticVariation GWASCAT Whole genome sequencing and imputation in isolated populations identify genetic associations with medically-relevant complex traits. 28548082 2017
dbSNP: rs112176573
rs112176573
Entrez Id: 3046;3048
Gene Symbol: HBE1;HBG2
HBE1;HBG2
CUI: C0427460
Disease:
Red cell distribution width determination 		A 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs112176573
rs112176573
Entrez Id: 3046;3048
Gene Symbol: HBE1;HBG2
HBE1;HBG2
CUI: C1304746
Disease:
RDW - Red blood cell distribution width result 		A 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs67385638
rs67385638
Entrez Id: 3046;3048
Gene Symbol: HBE1;HBG2
HBE1;HBG2
CUI: C0200695
Disease:
Fetal hemoglobin determination 		G 0.700 GeneticVariation GWASCAT Genome-wide association analyses based on whole-genome sequencing in Sardinia provide insights into regulation of hemoglobin levels. 26366553 2015
dbSNP: rs67385638
rs67385638
Entrez Id: 3046;3048
Gene Symbol: HBE1;HBG2
HBE1;HBG2
CUI: C0518015
Disease:
Hemoglobin measurement 		G 0.700 GeneticVariation GWASCAT Genome-wide association analyses based on whole-genome sequencing in Sardinia provide insights into regulation of hemoglobin levels. 26366553 2015
dbSNP: rs2213169
rs2213169
Entrez Id: 3046;3048
Gene Symbol: HBE1;HBG2
HBE1;HBG2
CUI: C4528257
Disease:
Corpuscular Hemoglobin Concentration Mean 		T 0.700 GeneticVariation GWASCAT GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children. 23263863 2013
dbSNP: rs2213169
rs2213169
Entrez Id: 3046;3048
Gene Symbol: HBE1;HBG2
HBE1;HBG2
CUI: C0474535
Disease:
Mean corpuscular hemoglobin concentration determination 		T 0.700 GeneticVariation GWASDB GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children. 23263863 2013
dbSNP: rs2213169
rs2213169
Entrez Id: 3046;3048
Gene Symbol: HBE1;HBG2
HBE1;HBG2
CUI: C0018935
Disease:
Hematocrit procedure 		T 0.700 GeneticVariation GWASCAT GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children. 23263863 2013
dbSNP: rs2213169
rs2213169
Entrez Id: 3046;3048
Gene Symbol: HBE1;HBG2
HBE1;HBG2
CUI: C0524587
Disease:
Mean Corpuscular Volume (result) 		T 0.700 GeneticVariation GWASDB GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children. 23263863 2013
dbSNP: rs7948471
rs7948471
Entrez Id: 3046;3048;282763;390064
Gene Symbol: HBE1;HBG2;OR51B5;OR51I2
HBE1;HBG2;OR51B5;OR51I2
CUI: C0002895
Disease:
Anemia, Sickle Cell 		A 0.700 GeneticVariation GWASCAT Genetic determinants of haemolysis in sickle cell anaemia. 23406172 2013
dbSNP: rs4910742
rs4910742
Entrez Id: 3046;3048
Gene Symbol: HBE1;HBG2
HBE1;HBG2
CUI: C0201657
Disease:
C-reactive protein measurement 		G 0.700 GeneticVariation GWASDB A genome-wide association scan on the levels of markers of inflammation in Sardinians reveals associations that underpin its complex regulation. 22291609 2012
dbSNP: rs4910742
rs4910742
Entrez Id: 3046;3048
Gene Symbol: HBE1;HBG2
HBE1;HBG2
CUI: C0005833
Disease:
Blood Sedimentation 		G 0.700 GeneticVariation GWASCAT A genome-wide association scan on the levels of markers of inflammation in Sardinians reveals associations that underpin its complex regulation. 22291609 2012