rs1052693

This is a coding sequence variant variant in the GTF2H4 gene.

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GWAS Catalog Trait Associations (1)

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

complement C4 measurement

Yang X et al. “Genome-wide association study for serum complement C3 and C4 levels in healthy Chinese subjects.” Plos Genetics 8(9):e1002916 (2012)
Allele G
OR 0.10
p 3.0e-48
N 1,999
Large GWAS
East Asian
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Research that mentions this SNP (1)

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Genetic variability in DNA repair and cell cycle control pathway genes and risk of smoking‐related lung cancer
AssociationN=1,651Shama C. Buch et al.(2012)· Molecular Carcinogenesis

This case-control study of 722 lung cancer cases and 929 controls examined 240 SNPs in DNA repair and cell cycle control pathway genes among smokers. Thirty-eight SNPs were associated with lung cancer risk at P<0.05, with strongest associations in GTF2H4 (rs2074508), LIG1 (rs10500298), PARP1 (rs747658, rs3219073), and XRCC1 (rs1799782, rs3213255). A genetic risk score combining 31 SNPs showed 3.44-fold increased risk in the highest versus lowest quartile.

Traits studied:AdenocarcinomaLung cancerNon-small cell lung cancerSmall cell lung cancerSmoking-related lung cancerSquamous cell carcinoma
PubMedDOIMetascience Observatory

About GTF2H4

Enables RNA polymerase II general transcription initiation factor activity. Involved in transcription by RNA polymerase II. Located in nuclear speck. Part of core TFIIH complex portion of holo TFIIH complex and transcription factor TFIID complex. [provided by Alliance of Genome Resources, Jul 2025]

View all GTF2H4 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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