rs2295601
This is a synonymous variant in the ELOVL2 gene — it does not change the protein's amino acid sequence.
▶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.
docosahexaenoic acid measurement
Riveros-Mckay F et al. “The influence of rare variants in circulating metabolic biomarkers.” Plos Genetics 16(3):e1008605 (2020)
Allele A
OR 0.17
p 5.0e-18
N 7,142
Large GWAS
European
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 G
OR 7.77
p 8.0e-15
N 16,508
Large GWAS
European
Cadby G et al. “Comprehensive genetic analysis of the human lipidome identifies loci associated with lipid homeostasis with links to coronary artery disease.” Nature Communications 13(1):3124 (2022)
Allele G
OR 0.14
p 3.0e-8
N 4,492
Large GWAS
European
phosphatidylcholine 38:7 measurement
Cadby G et al. “Comprehensive genetic analysis of the human lipidome identifies loci associated with lipid homeostasis with links to coronary artery disease.” Nature Communications 13(1):3124 (2022)
Allele A
OR 0.14
p 2.0e-8
N 4,492
Large GWAS
European
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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