rs7572733
This is a intron variant variant in the PLCL1 gene.
▶Research that mentions this SNP (2)
▶Genome‐Wide Association Study of Dermatomyositis Reveals Genetic Overlap With Other Autoimmune DisordersAssociationN=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.
▶A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinksMeta-analysisN=4,915Manav Kapoor et al.(2013)· Human Genetics
A meta-analysis of two genome-wide association studies (COGA and SAGE) identifying genetic variants associated with maximum number of alcoholic drinks consumed in 24 hours (maxdrinks). The study combined 4,915 participants of European descent and found suggestive associations with multiple loci including rs1229984 (ADH1B, p=2.04×10⁻⁸), rs4758317 (LMO1, p=7.2×10⁻⁷), and variants in PLCL1 (p=4.07×10⁻⁶). Approximately 40% of the variance in maxdrinks was explained by genome-wide SNPs.
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]
View all PLCL1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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