rs8078723

This is a upstream gene variant variant.

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GWAS Catalog Trait Associations (3)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

leukocyte quantity

Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)

Allele C

OR 0.07

p 8.0e-133

N 408,112

Large GWAS

European

Kong M et al. “Genetic associations with C-reactive protein level and white blood cell count in the KARE study.” International Journal of Immunogenetics 40(2):120-5 (2013)

Allele C

OR 0.16

p 3.0e-9

N 8,722

Large GWAS

neutrophil count

Nalls MA et al. “Multiple loci are associated with white blood cell phenotypes.” Plos Genetics 7(6):e1002113 (2011)

Allele T

OR 0.04

p 2.0e-31

N 19,509

Large GWAS

European

Keller MF et al. “Trans-ethnic meta-analysis of white blood cell phenotypes.” Human Molecular Genetics 23(25):6944-60 (2014)

Allele T

OR 0.04

p 3.0e-23

N 33,743

Meta-analysisLarge GWAS

multi-ancestry

Jain D et al. “Genome-wide association of white blood cell counts in Hispanic/Latino Americans: the Hispanic Community Health Study/Study of Latinos.” Human Molecular Genetics 26(6):1193-1204 (2017)

Allele T

OR 0.04

p 8.0e-9

N 11,809

Large GWAS

Hispanic or Latin American

level of phosphatidylcholine

Harshfield EL et al. “Genome-wide analysis of blood lipid metabolites in over 5000 South Asians reveals biological insights at cardiometabolic disease loci.” Bmc Medicine 19(1):232 (2021)

Allele C

OR 0.07

p 3.0e-12

N 13,814

Large GWAS

European

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Research that mentions this SNP (1)

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Strategies and issues in the detection of pathway enrichment in genome-wide association studies

MethodsN=28,191Mun-Gwan Hong et al.(2009)· Human Genetics

This methodological study develops ProxyGeneLD software for converting genome-wide SNP association data to pathway-enriched gene sets and validates it on multiple large GWAS datasets. The authors demonstrate successful replication of pathway enrichment for plasma HDL levels (with CETP and ABCA1 in lipid metabolism pathways) across independent samples and identify positional gene clustering as a major source of spurious enrichment in pathway analyses of GWAS data.

Traits studied:Crohn's diseasePlasma HDL cholesterolPlasma LDL cholesterolPlasma triglyceride levelsType 2 diabetes

PubMed DOI Metascience Observatory

This variant is in our database but has no known associations or PRS memberships yet.

rs8078723

GWAS Catalog Trait Associations (3)

leukocyte quantity

neutrophil count

level of phosphatidylcholine

Research that mentions this SNP (1)

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