rs2960306

This is a protein-altering variant in the GRK4 gene.

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GWAS Catalog Trait Associations (1)

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

cigarettes per day measurement

Erzurumluoglu AM et al. “Meta-analysis of up to 622,409 individuals identifies 40 novel smoking behaviour associated genetic loci.” Molecular Psychiatry 25(10):2392-2409 (2020)
Allele T
OR 0.02
p 1.0e-9
N 128,746
Meta-analysisLarge GWAS
multi-ancestry
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Research that mentions this SNP (1)

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Identification of aDMBT1polymorphism associated with increased breast cancer risk and decreased promoter activity
FunctionalTchatchou S. et al.(2010)· Human Mutation

This functional study identified 60 candidate differential allele-specific expression (DASE) loci in normal breast mammary epithelial cells using genome-wide SNP array analysis and validated them through Sanger sequencing. Key findings include identification of DMBT1 rs2981745 as a causal variant for DASE (DASE=2.03, P=0.0017, FDR=0.014), along with cancer-related genes ZNF331 and USP6 in a breast cancer-relevant pathway network. The study demonstrates that global DASE analysis is a novel approach for identifying breast cancer risk alleles.

Traits studied:Breast cancer riskBreast cancer susceptibility
PubMedDOIMetascience Observatory

About GRK4

This gene encodes a member of the guanine nucleotide-binding protein (G protein)-coupled receptor kinase subfamily of the Ser/Thr protein kinase family. The protein phosphorylates the activated forms of G protein-coupled receptors thus initiating its deactivation. This gene has been linked to both genetic and acquired hypertension. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]

View all GRK4 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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