rs1372072

This variant is located in the PLCL2 gene.

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GWAS Catalog Trait Associations (4)

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

smoking initiation

Saunders GRB et al. “Genetic diversity fuels gene discovery for tobacco and alcohol use.” Nature 612(7941):720-724 (2022)
Allele A
OR 0.01
p 1.0e-16
N 2,669,029
Large GWAS
European

biliary liver cirrhosis

Mells GF et al. “Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis.” Nature Genetics 43(4):329-32 (2011)
Allele A
OR 1.20
p 2.0e-8
N 7,003
Large GWAS
European

primary biliary cirrhosis

Cordell HJ et al. “International genome-wide meta-analysis identifies new primary biliary cirrhosis risk loci and targetable pathogenic pathways.” Nature Communications 6:8019 (2015)
Allele A
OR 1.20
p 4.0e-8
N 13,239
Meta-analysisLarge GWAS
European

About PLCL2

Enables GABA receptor binding activity. Predicted to be involved in several processes, including gamma-aminobutyric acid signaling pathway; negative regulation of cold-induced thermogenesis; and phosphatidylinositol-mediated signaling. Predicted to act upstream of or within B cell proliferation involved in immune response; B-1a B cell differentiation; and negative regulation of B cell receptor signaling pathway. Predicted to be located in cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]

View all PLCL2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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