HBM, hemoglobin subunit mu, 3042

N. diseases: 18; N. variants: 6
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs3785309
rs3785309
Entrez Id: 3042;107983982
Gene Symbol: HBM;LOC107983982
HBM;LOC107983982
CUI: C0427460
Disease:
Red cell distribution width determination 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs3785309
rs3785309
Entrez Id: 3042;107983982
Gene Symbol: HBM;LOC107983982
HBM;LOC107983982
CUI: C1304746
Disease:
RDW - Red blood cell distribution width result 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs2541638
rs2541638
Entrez Id: 3042
Gene Symbol: HBM
HBM
CUI: C2985280
Disease:
Blood Protein Measurement 		C 0.700 GeneticVariation GWASCAT Co-regulatory networks of human serum proteins link genetics to disease. 30072576 2018
dbSNP: rs2541639
rs2541639
Entrez Id: 3042
Gene Symbol: HBM
HBM
CUI: C0524587
Disease:
Mean Corpuscular Volume (result) 		0.700 GeneticVariation GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010 2018
dbSNP: rs2541639
rs2541639
Entrez Id: 3042
Gene Symbol: HBM
HBM
CUI: C4528257
Disease:
Corpuscular Hemoglobin Concentration Mean 		0.700 GeneticVariation GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010 2018
dbSNP: rs2541639
rs2541639
Entrez Id: 3042
Gene Symbol: HBM
HBM
CUI: C1261502
Disease:
Finding of Mean Corpuscular Hemoglobin 		0.700 GeneticVariation GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010 2018
dbSNP: rs148323035
rs148323035
Entrez Id: 3042
Gene Symbol: HBM
HBM
CUI: C0524587
Disease:
Mean Corpuscular Volume (result) 		T 0.700 GeneticVariation GWASCAT Genome-wide association study of red blood cell traits in Hispanics/Latinos: The Hispanic Community Health Study/Study of Latinos. 28453575 2017
dbSNP: rs7194649
rs7194649
Entrez Id: 3042;3051
Gene Symbol: HBM;HBZP1
HBM;HBZP1
CUI: C1304746
Disease:
RDW - Red blood cell distribution width result 		A 0.700 GeneticVariation GWASCAT Red blood cell distribution width: Genetic evidence for aging pathways in 116,666 volunteers. 28957414 2017
dbSNP: rs7194649
rs7194649
Entrez Id: 3042;3051
Gene Symbol: HBM;HBZP1
HBM;HBZP1
CUI: C0427460
Disease:
Red cell distribution width determination 		A 0.700 GeneticVariation GWASCAT Red blood cell distribution width: Genetic evidence for aging pathways in 116,666 volunteers. 28957414 2017
dbSNP: rs3785309
rs3785309
Entrez Id: 3042;107983982
Gene Symbol: HBM;LOC107983982
HBM;LOC107983982
CUI: C0206161
Disease:
Reticulocyte count (procedure) 		T 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs7194649
rs7194649
Entrez Id: 3042;3051
Gene Symbol: HBM;HBZP1
HBM;HBZP1
CUI: C0206161
Disease:
Reticulocyte count (procedure) 		A 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs2541639
rs2541639
Entrez Id: 3042
Gene Symbol: HBM
HBM
CUI: C0200695
Disease:
Fetal hemoglobin determination 		0.700 GeneticVariation GWASDB Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia. 18245381 2008
dbSNP: rs3760053
rs3760053
Entrez Id: 3042;107983982
Gene Symbol: HBM;LOC107983982
HBM;LOC107983982
CUI: C0039730
Disease:
Thalassemia 		0.010 GeneticVariation BEFREE A multiplex PCR assay was developed to detect simultaneously the (-<sup>SEA</sup>) allele and genotyping of a linked (rs3760053) to improve accuracy of prenatal diagnosis of α<sup>0</sup>-thalassemia. 28381876 2017