Source: GWASCAT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs11757577
rs11757577
HBS1L
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		0.700 GeneticVariation GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010

2018
dbSNP: rs12664956
rs12664956
HBS1L
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
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: rs12664956
rs12664956
HBS1L
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
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: rs1331308
rs1331308
HBS1L
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		C 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252

2016
dbSNP: rs1331309
rs1331309
HBS1L
CUI: C0018935
Disease: Hematocrit procedure
Hematocrit procedure 		0.700 GeneticVariation GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010

2018
dbSNP: rs1331309
rs1331309
HBS1L
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		G 0.700 GeneticVariation GWASCAT Whole genome sequencing and imputation in isolated populations identify genetic associations with medically-relevant complex traits. 28548082

2017
dbSNP: rs148394396
rs148394396
HBS1L
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370

2019
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: rs2210366
rs2210366
HBS1L
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 GeneticVariation GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010

2018
dbSNP: rs2210366
rs2210366
HBS1L
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result) 		A 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252

2016
dbSNP: rs34164109
rs34164109
HBS1L
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		C 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: rs34164109
rs34164109
HBS1L
CUI: C0206161
Disease: Reticulocyte count (procedure)
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: rs34208856
rs34208856
HBS1L
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		C 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252

2016
dbSNP: rs34208856
rs34208856
HBS1L
CUI: C0200633
Disease: Neutrophil count (procedure)
Neutrophil count (procedure) 		C 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252

2016
dbSNP: rs34208856
rs34208856
HBS1L
CUI: C0857490
Disease: Granulocyte count
Granulocyte count 		C 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252

2016
dbSNP: rs34208856
rs34208856
HBS1L
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		C 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252

2016
dbSNP: rs34208856
rs34208856
HBS1L
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 GeneticVariation GWASCAT Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program. 30275531

2018
dbSNP: rs34208856
rs34208856
HBS1L
CUI: C0200641
Disease: Blood basophil count (lab test)
Blood basophil count (lab test) 		C 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252

2016
dbSNP: rs35367489
rs35367489
HBS1L
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 GeneticVariation GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010

2018
dbSNP: rs35786788
rs35786788
HBS1L
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		G 0.700 GeneticVariation GWASCAT A large electronic-health-record-based genome-wide study of serum lipids. 29507422

2018
dbSNP: rs35786788
rs35786788
HBS1L
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		G 0.700 GeneticVariation GWASCAT A large electronic-health-record-based genome-wide study of serum lipids. 29507422

2018
dbSNP: rs35959442
rs35959442
HBS1L
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		G 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252

2016
dbSNP: rs41294858
rs41294858
HBS1L
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		C 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252

2016
dbSNP: rs4896131
rs4896131
HBS1L
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
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: rs4896131
rs4896131
HBS1L
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		A 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252

2016