rs188468174

This is a regulatory region variant variant in the RUNX3 gene.

GWAS Catalog Trait Associations (42)

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

interleukin-5 receptor subunit alpha measurement

Allele T
OR 0.62
p 1.0e-210
N 47,745
Large GWAS
European
Pietzner M et al. Mapping the proteo-genomic convergence of human diseases. Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele T
OR 0.52
p 1.0e-18
N 10,708
Large GWAS
European

immunoglobulin alpha fc receptor measurement

Allele T
OR 0.51
p 6.0e-149
N 47,745
Large GWAS
European

level of thioredoxin domain-containing protein 15 in blood

Allele T
OR 0.43
p 2.0e-103
N 47,745
Large GWAS
European

Fc receptor-like protein 5 measurement

Allele T
OR 0.44
p 3.0e-94
N 47,745
Large GWAS
European

balding measurement

Allele T
OR 0.27
p 6.0e-93
N 205,327
Large GWAS
European

SLAM family member 7 measurement

Allele T
OR 0.39
p 2.0e-86
N 47,745
Large GWAS
European
Pietzner M et al. Mapping the proteo-genomic convergence of human diseases. Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele T
OR 0.62
p 4.0e-25
N 10,708
Large GWAS
European

level of lymphocyte antigen 96 in blood

Allele T
OR 0.42
p 7.0e-73
N 47,745
Large GWAS
European

serum IgA amount

Jonsson S et al. Identification of sequence variants influencing immunoglobulin levels. Nature Genetics 49(8):1182-1191 (2017)
Allele T
OR 0.90
p 8.0e-55
N 16,883
Large GWAS
European

glutaminyl-peptide cyclotransferase measurement

Allele T
OR 0.35
p 3.0e-53
N 47,745
Large GWAS
European
Pietzner M et al. Mapping the proteo-genomic convergence of human diseases. Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele T
OR 0.43
p 5.0e-14
N 10,708
Large GWAS
European

About RUNX3

This gene encodes a member of the runt domain-containing family of transcription factors. A heterodimer of this protein and a beta subunit forms a complex that binds to the core DNA sequence 5'-PYGPYGGT-3' found in a number of enhancers and promoters, and can either activate or suppress transcription. It also interacts with other transcription factors. It functions as a tumor suppressor, and the gene is frequently deleted or transcriptionally silenced in cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]

View all RUNX3 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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