rs3798713
This is a regulatory region variant variant in the ELOVL2 gene.
▶GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
level of phosphatidylcholine
Lotta LA et al. “A cross-platform approach identifies genetic regulators of human metabolism and health.” Nature Genetics 53(1):54-64 (2021)
Allele C
OR 7.25
p 4.0e-13
N 16,836
Large GWAS
European
Harshfield EL et al. “Genome-wide analysis of blood lipid metabolites in over 5000 South Asians reveals biological insights at cardiometabolic disease loci.” Bmc Medicine 19(1):232 (2021)
Allele C
OR 0.10
p 2.0e-10
N 13,814
Large GWAS
European
eicosapentaenoic acid measurement
Lemaitre RN et al. “Genetic loci associated with plasma phospholipid n-3 fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.” Plos Genetics 7(7):e1002193 (2011)
Allele C
OR —
β 0.040
p 2.0e-12
N 8,866
Meta-analysisMajor Consortium Study
European
level of phosphatidylinositol
Harshfield EL et al. “Genome-wide analysis of blood lipid metabolites in over 5000 South Asians reveals biological insights at cardiometabolic disease loci.” Bmc Medicine 19(1):232 (2021)
Allele G
OR 0.08
p 5.0e-12
N 5,662
Large GWAS
South Asian
About ELOVL2
Enables fatty acid elongase activity. Involved in fatty acid elongation, polyunsaturated fatty acid and very long-chain fatty acid biosynthetic process. Located in endoplasmic reticulum. [provided by Alliance of Genome Resources, Jul 2025]
View all ELOVL2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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