rs4468717

This variant is located in the TGIF1 gene.

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GWAS Catalog Trait Associations (7)

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

urate measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele T
OR 0.02
p 7.0e-13
N 394,642
Large GWAS
European
Cho C et al. “Large-scale cross-ancestry genome-wide meta-analysis of serum urate.” Nature Communications 15(1):3441 (2024)
Allele T
OR 0.03
p 4.0e-10
N 1,029,323
Meta-analysisLarge GWAS
multi-ancestry

alkaline phosphatase measurement

Pazoki R et al. “Genetic analysis in European ancestry individuals identifies 517 loci associated with liver enzymes.” Nature Communications 12(1):2579 (2021)
Allele C
OR 0.00
p 3.0e-12
N 437,438
Large GWAS
European
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele C
OR 0.02
p 9.0e-12
N 394,642
Large GWAS
European

neutrophil count

Chen MH et al. “Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations.” Cell 182(5):1198-1213.e14 (2020)
Allele T
OR 0.02
p 5.0e-12
N 519,288
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 T
OR 0.03
p 1.0e-10
N 408,112
Large GWAS
European

pulse pressure measurement

Surendran P et al. “Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals.” Nature Genetics 52(12):1314-1332 (2020)
Allele T
OR 0.21
p 2.0e-9
N 810,865
Meta-analysisLarge GWAS
European

corneal resistance factor

He W et al. “Association of Novel Loci With Keratoconus Susceptibility in a Multitrait Genome-Wide Association Study of the UK Biobank Database and Canadian Longitudinal Study on Aging.” Jama Ophthalmology 140(6):568-576 (2022)
Allele T
OR 0.04
p 1.0e-8
N 123,734
Major Consortium StudyLarge GWAS
European
Jiang X et al. “Fine-mapping and cell-specific enrichment at corneal resistance factor loci prioritize candidate causal regulatory variants.” Communications Biology 3(1):762 (2020)
Allele T
OR 0.10
p 2.0e-8
N 76,029
Large GWAS
European

uric acid measurement

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele T
OR 0.02
p 2.0e-8
N 473,241
Large GWAS
multi-ancestry

systolic blood pressure

Surendran P et al. “Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals.” Nature Genetics 52(12):1314-1332 (2020)
Allele T
OR 0.34
p 1.0e-11
N 810,865
Meta-analysisLarge GWAS
European
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ClinVar annotation

Likely Benign★★★☆
6 submitters2 publications

not specified; Holoprosencephaly sequence; Holoprosencephaly 4; not provided

View on ClinVar →

About TGIF1

The protein encoded by this gene is a member of the three-amino acid loop extension (TALE) superclass of atypical homeodomains. TALE homeobox proteins are highly conserved transcription regulators. This particular homeodomain binds to a previously characterized retinoid X receptor responsive element from the cellular retinol-binding protein II promoter. In addition to its role in inhibiting 9-cis-retinoic acid-dependent RXR alpha transcription activation of the retinoic acid responsive element, the protein is an active transcriptional co-repressor of SMAD2 and may participate in the transmission of nuclear signals during development and in the adult. Mutations in this gene are associated with holoprosencephaly type 4, which is a structural anomaly of the brain. Alternative splicing has been observed at this locus and multiple splice variants encoding distinct isoforms are described. [provided by RefSeq, Jul 2013]

View all TGIF1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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