rs111527738

This variant is located in the RUNX1 gene.

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GWAS Catalog Trait Associations (9)

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

tumor necrosis factor receptor superfamily member EDAR amount

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele G
OR 0.20
p 3.0e-26
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 G
OR 0.37
p 9.0e-14
N 10,708
Large GWAS
European

platelet glycoprotein 4 level

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele G
OR 0.17
p 4.0e-21
N 47,745
Large GWAS
European

level of CCN family member 2 in blood

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele G
OR 0.15
p 4.0e-16
N 47,745
Large GWAS
European

dickkopf‐related protein 1 measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele G
OR 0.15
p 9.0e-16
N 47,745
Large GWAS
European

bone morphogenetic protein 6 measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele G
OR 0.16
p 3.0e-15
N 47,745
Large GWAS
European

platelet count

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele G
OR 0.05
p 3.0e-13
N 394,642
Large GWAS
European
Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele G
OR 0.06
p 2.0e-12
N 408,112
Large GWAS
European

nidogen-2 measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele G
OR 0.12
p 8.0e-13
N 47,745
Large GWAS
European

platelet-derived growth factor subunit A measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele G
OR 0.14
p 9.0e-13
N 47,745
Large GWAS
European

angiopoietin-1 measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele G
OR 0.13
p 1.0e-11
N 47,745
Large GWAS
European
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ClinVar annotation

Benign★★★★
17 submitters3 publications

Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1; not provided; Hereditary cancer-predisposing syndrome; Acute myeloid leukemia; RUNX1-related disorder; Inborn genetic diseases; not specified

View on ClinVar →

About RUNX1

Core binding factor (CBF) is a heterodimeric transcription factor that binds to the core element of many enhancers and promoters. The protein encoded by this gene represents the alpha subunit of CBF and is thought to be involved in the development of normal hematopoiesis. Chromosomal translocations involving this gene are well-documented and have been associated with several types of leukemia. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

View all RUNX1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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