Source: GWASCAT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1547247
rs1547247
HBS1L
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.800 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370

2019
dbSNP: rs7745098
rs7745098
HBS1L
CUI: C0019829
Disease: Hodgkin Disease
Hodgkin Disease 		G 0.800 GeneticVariation GWASCAT A combined analysis identifies new HL susceptibility loci mapping to 3p24.1 (rs3806624; P=1.14 × 10(-12), odds ratio (OR)=1.26) and 6q23.3 (rs7745098; P=3.42 × 10(-9), OR=1.21). rs3806624 localizes 5' to the EOMES (eomesodermin) gene within a p53 response element affecting p53 binding. rs7745098 maps intergenic to HBS1L and MYB, a region previously associated with haematopoiesis. 24149102

2013
dbSNP: rs7775698
rs7775698
HBS1L
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		T 0.800 GeneticVariation GWASCAT GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children. 23263863

2013
dbSNP: rs7775698
rs7775698
HBS1L
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result) 		T 0.800 GeneticVariation GWASCAT GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children. 23263863

2013
dbSNP: rs7775698
rs7775698
HBS1L
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		T 0.800 GeneticVariation GWASCAT A genome-wide association study of red blood cell traits using the electronic medical record. 20927387

2010
dbSNP: rs7775698
rs7775698
HBS1L
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result) 		T 0.800 GeneticVariation GWASCAT Genome-wide association study of hematological and biochemical traits in a Japanese population. 20139978

2010
dbSNP: rs7775698
rs7775698
HBS1L
CUI: C0018935
Disease: Hematocrit procedure
Hematocrit procedure 		T 0.800 GeneticVariation GWASCAT Genome-wide association study of hematological and biochemical traits in a Japanese population. 20139978

2010
dbSNP: rs7775698
rs7775698
HBS1L
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		T 0.800 GeneticVariation GWASCAT Genome-wide association study of hematological and biochemical traits in a Japanese population. 20139978

2010
dbSNP: rs7775698
rs7775698
HBS1L
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		T 0.800 GeneticVariation GWASCAT Genome-wide association study of hematological and biochemical traits in a Japanese population. 20139978

2010
dbSNP: rs7775698
rs7775698
HBS1L
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		T 0.800 GeneticVariation GWASCAT A genome-wide association study of red blood cell traits using the electronic medical record. 20927387

2010
dbSNP: rs7775698
rs7775698
HBS1L
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		T 0.800 GeneticVariation GWASCAT Genome-wide association study of hematological and biochemical traits in a Japanese population. 20139978

2010
dbSNP: rs7775698
rs7775698
HBS1L
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		C 0.800 GeneticVariation GWASCAT Sequence variants in three loci influence monocyte counts and erythrocyte volume. 19853236

2009
dbSNP: rs7775698
rs7775698
HBS1L
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result) 		C 0.800 GeneticVariation GWASCAT Sequence variants in three loci influence monocyte counts and erythrocyte volume. 19853236

2009
dbSNP: rs7776054
rs7776054
HBS1L
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.800 GeneticVariation GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010

2018
dbSNP: rs7776054
rs7776054
HBS1L
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.800 GeneticVariation GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010

2018
dbSNP: rs7776054
rs7776054
HBS1L
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.800 GeneticVariation GWASCAT Genome-wide Trans-ethnic Meta-analysis Identifies Seven Genetic Loci Influencing Erythrocyte Traits and a Role for RBPMS in Erythropoiesis. 28017375

2017
dbSNP: rs7776054
rs7776054
HBS1L
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		G 0.800 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252

2016
dbSNP: rs7776054
rs7776054
HBS1L
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		G 0.800 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252

2016
dbSNP: rs7776054
rs7776054
HBS1L
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		G 0.800 GeneticVariation GWASCAT Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium. 19862010

2009
dbSNP: rs9373124
rs9373124
HBS1L
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		T 0.800 GeneticVariation GWASCAT Identification of nine novel loci associated with white blood cell subtypes in a Japanese population. 21738478

2011
dbSNP: rs9373124
rs9373124
HBS1L
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		C 0.800 GeneticVariation GWASCAT Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium. 19862010

2009
dbSNP: rs9376090
rs9376090
HBS1L
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		T 0.800 GeneticVariation GWASCAT A large electronic-health-record-based genome-wide study of serum lipids. 29507422

2018
dbSNP: rs9376090
rs9376090
HBS1L
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.800 GeneticVariation GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010

2018
dbSNP: rs9376090
rs9376090
HBS1L
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		T 0.800 GeneticVariation GWASCAT Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels. 28334899

2017
dbSNP: rs9376090
rs9376090
HBS1L
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		T 0.800 GeneticVariation GWASCAT Genome-wide Trans-ethnic Meta-analysis Identifies Seven Genetic Loci Influencing Erythrocyte Traits and a Role for RBPMS in Erythropoiesis. 28017375

2017