rs2292643
This is a splice region variant variant in the PGS1 gene.
▶GWAS Catalog Trait Associations (4)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (4)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
saturated fatty acids to total fatty acids percentage
Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele A
OR 0.02
p 7.0e-26
N 450,015
Large GWAS
multi-ancestry
non-alcoholic fatty liver disease
Du M et al. “Cross-trait genomic modeling reveals the polygenic architecture and systemic impact of MASLD.” Science Advances 12(7):eaeb5665 (2026)
Allele G
OR 0.04
p 3.0e-18
N 122,644
Large GWAS
European
cholesteryl esters:total lipids ratio, high density lipoprotein cholesterol measurement
Richardson TG et al. “Characterising metabolomic signatures of lipid-modifying therapies through drug target mendelian randomisation.” Plos Biology 20(2):e3001547 (2022)
Allele G
OR 0.02
p 1.0e-8
N 115,082
Large GWAS
European
low density lipoprotein cholesterol measurement, free cholesterol:total lipids ratio
Richardson TG et al. “Characterising metabolomic signatures of lipid-modifying therapies through drug target mendelian randomisation.” Plos Biology 20(2):e3001547 (2022)
Allele G
OR 0.02
p 4.0e-8
N 115,082
Large GWAS
European
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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