rs1264308

This is a upstream gene variant variant in the GTF2H4 gene.

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GWAS Catalog Trait Associations (2)

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

squamous cell lung carcinoma

Qin N et al. “Comprehensive functional annotation of susceptibility variants identifies genetic heterogeneity between lung adenocarcinoma and squamous cell carcinoma.” Frontiers of Medicine 15(2):275-291 (2021)

Allele T

OR 1.29

p 6.0e-10

N 35,705

Large GWAS

East Asian, European

Inguinal hernia

Wei J et al. “Identification of fifty-seven novel loci for abdominal wall hernia development and their biological and clinical implications: results from the UK Biobank.” Hernia : the Journal of Hernias and Abdominal Wall Surgery 26(1):335-348 (2022)

Allele C

OR 1.09

p 4.0e-8

N 275,546

Major Consortium StudyLarge GWAS

European

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Research that mentions this SNP (2)

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Genetic variants of genes in the NER pathway associated with risk of breast cancer: A large‐scale analysis of 14 published GWAS datasets in the DRIVE study

Meta-analysisN=53,107Jie Ge et al.(2019)· International Journal of Cancer

A large-scale meta-analysis of 14 GWAS datasets from the DRIVE Study (53,107 European-descent subjects) identified four novel genetic variants in nucleotide excision repair (NER) pathway genes associated with breast cancer risk: BIVM-ERCC5 rs1323697 (OR=1.06, 95% CI=1.03-1.10), GTF2H4 rs1264308 (OR=0.93, 95% CI=0.89-0.97), COPS2 rs141308737 (OR=1.06, 95% CI=1.03-1.09), and ELL rs1469412 (OR=0.93, 95% CI=0.90-0.96). eQTL analysis revealed that BIVM-ERCC5 rs1323697 C and ELL rs1469412 C alleles were associated with increased mRNA expression of their respective genes, suggesting functional roles in breast cancer etiology.

Traits studied:Breast cancer

PubMed DOI Metascience Observatory

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Genetic association of the major histocompatibility complex with rheumatoid arthritis implicates two non‐DRB1 loci

AssociationN=1,832Charlotte Vignal et al.(2009)· Arthritis & Rheumatism

This case-control study of 855 rheumatoid arthritis patients and 977 controls identified SNP associations in the MHC region using logistic regression across 2,360 markers. After adjusting for HLA-DRB1, 18 markers in 14 genes showed strong associations (P < 10^-4). The final model retained three independent markers: rs4678 in VARS2L (nonsynonymous R/Q at position 1049), rs2442728 upstream of HLA-B, and rs17499655 in HLA-DQA2 5'-UTR, confirming polygenic MHC contribution to RA beyond the shared epitope.

Traits studied:Anti-cyclic citrullinated peptide (anti-CCP) antibodiesRheumatoid ArthritisRheumatoid Factor (RF) seropositivity

PubMed DOI Metascience 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]