rs174574

This variant is located in the FADS2 gene.

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GWAS Catalog Trait Associations (121)

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

fatty acid amount

Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele A
OR 0.32
p —
N 136,016
Large GWAS
multi-ancestry
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 A
OR 0.11
p 2.0e-15
N 5,662
Large GWAS
South Asian

phospholipids in very large HDL measurement

Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele A
OR 0.12
p 1.0e-197
N 136,016
Large GWAS
multi-ancestry

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 0.12
p 1.0e-189
N 136,016
Large GWAS
multi-ancestry

total lipids in very large HDL measurement

Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele A
OR 0.12
p 2.0e-187
N 136,016
Large GWAS
multi-ancestry

lipid measurement

Surendran P et al. “Rare and common genetic determinants of metabolic individuality and their effects on human health.” Nature Medicine 28(11):2321-2332 (2022)
Allele A
OR 0.30
p 8.0e-178
N 14,296
Large GWAS
European

HDL particle size

Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele A
OR 0.12
p 8.0e-174
N 136,016
Large GWAS
multi-ancestry

cholesteryl esters:total lipids ratio, blood VLDL cholesterol amount

Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele A
OR 0.11
p 3.0e-169
N 136,016
Large GWAS
multi-ancestry

cholesterol:total lipids ratio, blood VLDL cholesterol amount

Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele A
OR 0.11
p 4.0e-169
N 136,016
Large GWAS
multi-ancestry

free cholesterol in very large HDL measurement

Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele A
OR 0.11
p 8.0e-159
N 136,016
Large GWAS
multi-ancestry

total cholesterol measurement, 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 4.0e-151
N 136,016
Large GWAS
multi-ancestry

About FADS2

The protein encoded by this gene is a member of the fatty acid desaturase (FADS) gene family. Desaturase enzymes regulate unsaturation of fatty acids through the introduction of double bonds between defined carbons of the fatty acyl chain. FADS family members are considered fusion products composed of an N-terminal cytochrome b5-like domain and a C-terminal multiple membrane-spanning desaturase portion, both of which are characterized by conserved histidine motifs. This gene is clustered with family members at 11q12-q13.1; this cluster is thought to have arisen evolutionarily from gene duplication based on its similar exon/intron organization. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]

View all FADS2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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