rs247617

This is a upstream gene variant variant.

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GWAS Catalog Trait Associations (53)

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

cholesterol to total lipids in small LDL 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 0.14
p —
N 241,027
Large GWAS
European

high density lipoprotein cholesterol measurement

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele C
OR 0.24
p 3.0e-308
N 54,914
Major Consortium StudyLarge GWAS
Hispanic or Latin American
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 0.21
p 1.0e-300
N 94,674
Large GWAS
multi-ancestry
Petty LE et al. “Large-scale multi-omics analyses in Hispanic/Latino populations identify genes for cardiometabolic traits.” Nature Communications 16(1):3438 (2025)
Allele C
OR 0.22
p 1.0e-299
N 62,138
Large GWAS
Hispanic or Latin American
Coram MA et al. “Genome-wide characterization of shared and distinct genetic components that influence blood lipid levels in ethnically diverse human populations.” American Journal of Human Genetics 92(6):904-16 (2013)
Allele C
OR —
β 0.062
p 1.0e-44
N 11,423
Large GWAS
multi-ancestry
Li-Gao R et al. “Genetic Studies of Metabolomics Change After a Liquid Meal Illuminate Novel Pathways for Glucose and Lipid Metabolism.” Diabetes 70(12):2932-2946 (2021)
Allele C
OR 0.17
p 1.0e-12
Large GWAS

cholesteryl esters to total lipids in medium LDL 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 0.09
p 1.0e-180
N 241,027
Large GWAS
European

free cholesterol to total lipids in medium LDL 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 0.06
p 4.0e-167
N 450,015
Large GWAS
multi-ancestry

metabolic syndrome

Lind L et al. “Genome-Wide Association Study of the Metabolic Syndrome in UK Biobank.” Metabolic Syndrome and Related Disorders 17(10):505-511 (2019)
Allele A
OR 0.20
p 2.0e-166
N 291,107
Major Consortium StudyLarge GWAS
European
Ho CY et al. “A Genome-Wide Association Study of Metabolic Syndrome in the Taiwanese Population.” Nutrients 16(1) (2023)
Allele A
OR 0.14
p 1.0e-22
N 107,230
Large GWAS
East Asian
Kristiansson K et al. “Genome-wide screen for metabolic syndrome susceptibility Loci reveals strong lipid gene contribution but no evidence for common genetic basis for clustering of metabolic syndrome traits.” Circulation. Cardiovascular Genetics 5(2):242-9 (2012)
Allele A
OR 0.25
p 9.0e-60
N 10,564
Large GWAS
European

cholesteryl ester measurement

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 0.06
p 2.0e-165
N 450,015
Large GWAS
multi-ancestry

phospholipids:total lipids ratio, high density lipoprotein cholesterol measurement

Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele A
OR 0.11
p 1.0e-134
N 136,016
Large GWAS
multi-ancestry

phospholipids:total lipids ratio

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 0.07
p 1.0e-122
N 241,027
Large GWAS
European

low density lipoprotein cholesterol measurement

Graham SE et al. “The power of genetic diversity in genome-wide association studies of lipids.” Nature 600(7890):675-679 (2021)
Allele A
OR 0.04
p 2.0e-101
N 1,320,016
Large GWAS
European
Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele A
OR 0.03
p 2.0e-41
N 416,487
Large GWAS
multi-ancestry
Hoffmann TJ et al. “A large electronic-health-record-based genome-wide study of serum lipids.” Nature Genetics 50(3):401-413 (2018)
Allele A
OR —
β 0.033
p 2.0e-10
N 94,674
Large GWAS
multi-ancestry
Surakka I et al. “The impact of low-frequency and rare variants on lipid levels.” Nature Genetics 47(6):589-97 (2015)
Allele A
OR 0.07
p 2.0e-24
N 62,166
Large GWAS
European

This variant is in our database but has no known associations or PRS memberships yet.

Gene information from NCBI Gene. Variant classifications from ClinVar.

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