rs6738825

This is a intron variant variant in the PLCL1 gene.

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GWAS Catalog Trait Associations (2)

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

allergic rhinitis

Johansson Å et al. “Genome-wide association analysis of 350 000 Caucasians from the UK Biobank identifies novel loci for asthma, hay fever and eczema.” Human Molecular Genetics 28(23):4022-4041 (2019)

Allele A

OR 1.07

p 2.0e-10

N 258,688

Major Consortium StudyLarge GWAS

European

Crohn's disease

Franke A et al. “Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.” Nature Genetics 42(12):1118-25 (2010)

Allele A

OR 1.06

p 4.0e-9

N 21,389

Meta-analysisLarge GWAS

European

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Research that mentions this SNP (1)

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Genome‐Wide Association Study of Dermatomyositis Reveals Genetic Overlap With Other Autoimmune Disorders

AssociationN=5,902Frederick W. Miller et al.(2013)· Arthritis & Rheumatism

This genome-wide association study (GWAS) of 1,178 dermatomyositis cases and 4,724 controls identified strong associations in the MHC region (P < 5×10⁻⁸ at 80 SNPs) and three novel non-MHC autoimmune-associated variants: PLCL1 (rs6738825, FDR=0.00089), BLK (rs2736340, FDR=0.00031), and CCL21 (rs951005, FDR=0.0076). The findings demonstrate genetic overlap between dermatomyositis and other autoimmune diseases.

Traits studied:Autoimmune disease overlapDermatomyositis (adult and juvenile)

PubMed DOI Metascience Observatory

About PLCL1

Predicted to enable GABA receptor binding activity and phosphatidylinositol-4,5-bisphosphate phospholipase C 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 be located in cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]