rs4969186
This variant is located in the PGS1 gene.
▶GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
high density lipoprotein cholesterol measurement
Kim YJ et al. “The contribution of common and rare genetic variants to variation in metabolic traits in 288,137 East Asians.” Nature Communications 13(1):6642 (2022)
Allele C
OR 0.03
p 2.0e-20
N 288,127
Large GWAS
East Asian
Hoffmann TJ et al. “A large electronic-health-record-based genome-wide study of serum lipids.” Nature Genetics 50(3):401-413 (2018)
Allele C
OR —
β 0.025
p 1.0e-10
N 94,674
Large GWAS
multi-ancestry
triglyceride measurement
Hoffmann TJ et al. “A large electronic-health-record-based genome-wide study of serum lipids.” Nature Genetics 50(3):401-413 (2018)
Allele G
OR —
β 0.021
p 5.0e-8
N 94,674
Large GWAS
multi-ancestry
About PGS1
Predicted to enable CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity and calcium ion binding activity. Predicted to be involved in cardiolipin biosynthetic process and diacylglycerol metabolic process. Located in endoplasmic reticulum. Is active in mitochondrion. [provided by Alliance of Genome Resources, Jul 2025]
View all PGS1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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