Source: GWASCAT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs9399137
rs9399137
HBS1L
CUI: C0200695
Disease: Fetal hemoglobin determination
Fetal hemoglobin determination 		0.800 GeneticVariation GWASCAT A QTL influencing F cell production maps to a gene encoding a zinc-finger protein on chromosome 2p15. 17767159

2007
dbSNP: rs9399137
rs9399137
HBS1L
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		T 0.800 GeneticVariation GWASCAT Sequence variants in three loci influence monocyte counts and erythrocyte volume. 19853236

2009
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: 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: 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: 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: 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: C0518015
Disease: Hemoglobin measurement
Hemoglobin measurement 		T 0.700 GeneticVariation GWASCAT Genome-wide association study of hematological and biochemical traits in a Japanese population. 20139978

2010
dbSNP: rs7775698
rs7775698
HBS1L
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		T 0.700 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 		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: 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: 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: rs9399137
rs9399137
HBS1L
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		C 0.800 GeneticVariation GWASCAT New gene functions in megakaryopoiesis and platelet formation. 22139419

2011
dbSNP: rs9399137
rs9399137
HBS1L
CUI: C0474543
Disease: Hemoglobin A2 measurement
Hemoglobin A2 measurement 		C 0.700 GeneticVariation GWASCAT HbA2 levels in normal adults are influenced by two distinct genetic mechanisms. 23043469

2013
dbSNP: rs9399137
rs9399137
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: rs9399137
rs9399137
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 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: rs9399137
rs9399137
HBS1L
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		T 0.800 GeneticVariation GWASCAT A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects. 24026423

2014
dbSNP: rs9376090
rs9376090
HBS1L
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		C 0.800 GeneticVariation GWASCAT Discovery and refinement of loci associated with lipid levels. 24097068

2013
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