rs4150678

This is a intron variant variant in the GTF2H1 gene.

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GWAS Catalog Trait Associations (2)

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

alpha-hydroxyisovalerate measurement

Surendran P et al. “Rare and common genetic determinants of metabolic individuality and their effects on human health.” Nature Medicine 28(11):2321-2332 (2022)

Allele C

OR 0.27

p 2.0e-153

N 14,296

Large GWAS

European

imidazole lactate measurement

Yin X et al. “Genome-wide association studies of metabolites in Finnish men identify disease-relevant loci.” Nature Communications 13(1):1644 (2022)

Allele G

OR 0.16

p 2.0e-18

N 6,136

Large GWAS

European

About GTF2H1

Enables nuclear thyroid hormone receptor binding activity. Involved in positive regulation of DNA-templated transcription and transcription initiation at RNA polymerase II promoter. Located in nucleoplasm. Part of transcription factor TFIIH core complex and transcription factor TFIIH holo complex. [provided by Alliance of Genome Resources, Jul 2025]

View all GTF2H1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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