Source: GWASCAT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs12075
rs12075
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure
0.800 GeneticVariation GWASCAT Genetic analyses of diverse populations improves discovery for complex traits. 31217584

2019

dbSNP: rs12075
rs12075
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure
G 0.800 GeneticVariation GWASCAT Genetic variants associated with the white blood cell count in 13,923 subjects in the eMERGE Network. 22037903

2012

dbSNP: rs2814778
rs2814778
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure
T 0.800 GeneticVariation GWASCAT Uganda Genome Resource Enables Insights into Population History and Genomic Discovery in Africa. 31675503

2019

dbSNP: rs2814778
rs2814778
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure
0.800 GeneticVariation GWASCAT Genetic analyses of diverse populations improves discovery for complex traits. 31217584

2019

dbSNP: rs2814778
rs2814778
CUI: C0200633
Disease: Neutrophil count (procedure)
Neutrophil count (procedure)
T 0.800 GeneticVariation GWASCAT Uganda Genome Resource Enables Insights into Population History and Genomic Discovery in Africa. 31675503

2019

dbSNP: rs2814778
rs2814778
CUI: C0200633
Disease: Neutrophil count (procedure)
Neutrophil count (procedure)
C 0.800 GeneticVariation GWASCAT A genome-wide association study in individuals of African ancestry reveals the importance of the Duffy-null genotype in the assessment of clozapine-related neutropenia. 30647433

2019

dbSNP: rs2814778
rs2814778
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure
C 0.800 GeneticVariation GWASCAT Analyses of genome wide association data, cytokines, and gene expression in African-Americans with benign ethnic neutropenia. 29596498

2018

dbSNP: rs2814778
rs2814778
CUI: C0200633
Disease: Neutrophil count (procedure)
Neutrophil count (procedure)
T 0.800 GeneticVariation GWASCAT Genome-wide association of white blood cell counts in Hispanic/Latino Americans: the Hispanic Community Health Study/Study of Latinos. 28158719

2017

dbSNP: rs2814778
rs2814778
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure
T 0.800 GeneticVariation GWASCAT Genome-wide association of white blood cell counts in Hispanic/Latino Americans: the Hispanic Community Health Study/Study of Latinos. 28158719

2017

dbSNP: rs2814778
rs2814778
CUI: C0200633
Disease: Neutrophil count (procedure)
Neutrophil count (procedure)
C 0.800 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252

2016

dbSNP: rs2814778
rs2814778
CUI: C0200633
Disease: Neutrophil count (procedure)
Neutrophil count (procedure)
C 0.800 GeneticVariation GWASCAT Phenome-wide Association Study Relating Pretreatment Laboratory Parameters With Human Genetic Variants in AIDS Clinical Trials Group Protocols. 25884002

2015

dbSNP: rs2814778
rs2814778
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure
A 0.800 GeneticVariation GWASCAT These results validate the previously reported association between WBC and of the regulatory variant rs2814778 in the promoter region, which causes the Duffy negative phenotype (Fy-/-). 22037903

2012

dbSNP: rs2814778
rs2814778
CUI: C0200633
Disease: Neutrophil count (procedure)
Neutrophil count (procedure)
0.800 GeneticVariation GWASCAT Duffy-null-associated low neutrophil counts influence HIV-1 susceptibility in high-risk South African black women. 21507922

2011

dbSNP: rs12075
rs12075
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement
A 0.700 GeneticVariation GWASCAT Genomic atlas of the human plasma proteome. 29875488

2018

dbSNP: rs12075
rs12075
CUI: C2697788
Disease: Interleukin 8 Measurement
Interleukin 8 Measurement
G 0.700 GeneticVariation GWASCAT Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors. 27989323

2017

dbSNP: rs12075
rs12075
CUI: C0750880
Disease: Monocyte count result
Monocyte count result
A 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252

2016

dbSNP: rs12075
rs12075
CUI: C0200641
Disease: Blood basophil count (lab test)
Blood basophil count (lab test)
A 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252

2016

dbSNP: rs12075
rs12075
CUI: C0200637
Disease: Monocyte count procedure
Monocyte 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: rs13962
rs13962
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement
A 0.700 GeneticVariation GWASCAT Genomic atlas of the human plasma proteome. 29875488

2018

dbSNP: rs2814778
rs2814778
CUI: C0200637
Disease: Monocyte count procedure
Monocyte count procedure
T 0.700 GeneticVariation GWASCAT Uganda Genome Resource Enables Insights into Population History and Genomic Discovery in Africa. 31675503

2019

dbSNP: rs2814778
rs2814778
CUI: C0750880
Disease: Monocyte count result
Monocyte count result
T 0.700 GeneticVariation GWASCAT Uganda Genome Resource Enables Insights into Population History and Genomic Discovery in Africa. 31675503

2019

dbSNP: rs2814778
rs2814778
CUI: C0200637
Disease: Monocyte count procedure
Monocyte count procedure
T 0.700 GeneticVariation GWASCAT Genome-wide association of white blood cell counts in Hispanic/Latino Americans: the Hispanic Community Health Study/Study of Latinos. 28158719

2017

dbSNP: rs2814778
rs2814778
CUI: C0750880
Disease: Monocyte count result
Monocyte count result
T 0.700 GeneticVariation GWASCAT Genome-wide association of white blood cell counts in Hispanic/Latino Americans: the Hispanic Community Health Study/Study of Latinos. 28158719

2017

dbSNP: rs2814778
rs2814778
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: rs2814778
rs2814778
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