rs3130934

This is a downstream gene variant variant in the TCF19 gene.

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GWAS Catalog Trait Associations (6)

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

level of protein PBMUCL2 in blood

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 0.06
p 1.0e-28
N 47,745
Large GWAS
European
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Research that mentions this SNP (1)

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Significant association of combination of OCT4, NANOG, and SOX2 gene polymorphisms in susceptibility and response to treatment in North Indian breast cancer patients
AssociationN=570Sonam Tulsyan et al.(2014)· Cancer Chemotherapy and Pharmacology

Case-control study of 297 breast cancer patients and 273 healthy controls from north India examining embryonic stem cell gene polymorphisms. SOX2 rs11915160 (AC/CC genotypes, OR=2.71, p=0.031) and C allele (OR=2.67, p=0.031) were associated with premenopausal breast cancer risk. OCT4 rs3130932 showed protective effects (OR=0.63-0.68), and LIN28 rs4274112 was associated with positive lymph node status (OR=6.08 for genotype, OR=3.07 for allele, p=0.021). Gene combination analysis via MDR showed improved prediction models for breast cancer susceptibility.

Traits studied:Breast cancerBreast cancer riskHormone receptor statusLymph node statusNeoadjuvant chemotherapy responsePostmenopausal breast cancerPremenopausal breast cancer
PubMedDOIMetascience Observatory

About TCF19

This gene encodes a protein that contains a PHD-type zinc finger domain and likely functions as a transcription factor. The encoded protein plays a role proliferation and apoptosis of pancreatic beta cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]

View all TCF19 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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