rs2359171

This is a upstream gene variant variant in the ZFHX3 gene.

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GWAS Catalog Trait Associations (6)

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

atrial fibrillation

Roselli C et al. “Multi-ethnic genome-wide association study for atrial fibrillation.” Nature Genetics 50(9):1225-1233 (2018)
Allele A
OR 1.21
p 3.0e-100
N 588,190
Large GWAS
multi-ancestry
Nielsen JB et al. “Biobank-driven genomic discovery yields new insight into atrial fibrillation biology.” Nature Genetics 50(9):1234-1239 (2018)
Allele A
OR 1.19
p 5.0e-91
N 1,030,836
Large GWAS
European
Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele A
OR 0.16
p 4.0e-91
N 622,007
Major Consortium StudyLarge GWAS
multi-ancestry
Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele A
OR 0.31
p 2.0e-34
N 159,690
Large GWAS
East Asian

cardiac arrhythmia

Ishigaki K et al. “Large-scale genome-wide association study in a Japanese population identifies novel susceptibility loci across different diseases.” Nature Genetics 52(7):669-679 (2020)
Allele A
OR 1.19
p 7.0e-47
N 212,453
Large GWAS
East Asian

prothrombin time measurement

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele T
OR 0.04
p 9.0e-13
N 120,609
Major Consortium StudyLarge GWAS
multi-ancestry

Antithrombotic agent use measurement

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele A
OR 0.05
p 1.0e-8
N 178,726
Large GWAS
East Asian

atrial flutter

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele T
OR 0.17
p 3.0e-43
N 440,917
Major Consortium StudyLarge GWAS
European

heart failure

Enzan N et al. “Genome-wide analysis of heart failure yields insights into disease heterogeneity and enables prognostic prediction in the Japanese population.” Nature Communications 16(1):9680 (2025)
Allele A
OR 0.10
p 1.0e-10
N 183,117
Large GWAS
multi-ancestry

About ZFHX3

This gene encodes a transcription factor with multiple homeodomains and zinc finger motifs, and regulates myogenic and neuronal differentiation. The encoded protein suppresses expression of the alpha-fetoprotein gene by binding to an AT-rich enhancer motif. The protein has also been shown to negatively regulate c-Myb, and transactivate the cell cycle inhibitor cyclin-dependent kinase inhibitor 1A (also known as p21CIP1). This gene is reported to function as a tumor suppressor in several cancers, and sequence variants of this gene are also associated with atrial fibrillation. Multiple transcript variants expressed from alternate promoters and encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]

View all ZFHX3 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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