rs99780

This is a regulatory region variant variant in the FADS2 gene.

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GWAS Catalog Trait Associations (62)

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

docosahexaenoic acid measurement

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele T
OR 0.33
p —
N 203,300
Large GWAS
European
Sun Y et al. “GWAS and multi-omics integrative analysis reveal novel loci and their molecular mechanisms for circulating fatty acids.” Hgg Advances 6(4):100470 (2025)
Allele T
OR —
p 5.0e-28
N 4,663
Large GWAS
Central Asian, South Asian
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 T
OR 0.14
p 3.0e-10
Large GWAS

arachidonate 20:4n6 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 T
OR 0.38
p 2.0e-278
N 14,296
Large GWAS
European

1-arachidonylglycerol (20:4) 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 T
OR 0.29
p 2.0e-134
N 14,296
Large GWAS
European

1-stearoyl-2-meadoyl-GPC (18:0/20:3n9) 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 T
OR 0.28
p 3.0e-130
N 14,296
Large GWAS
European

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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