rs174577

This is a intron variant variant in the FADS2 gene.

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GWAS Catalog Trait Associations (36)

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

docosahexaenoic acid to total fatty acids 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 0.29
p —
N 203,300
Large GWAS
European

1-linoleoyl-2-arachidonoyl-GPC (18:2/20:4n6) 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 A
OR 0.23
p 2.0e-97
N 14,296
Large GWAS
European

1-arachidonoyl-GPI (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 A
OR 0.19
p 3.0e-74
N 14,296
Large GWAS
European

arachidonic acid measurement

Dorajoo R et al. “A genome-wide association study of n-3 and n-6 plasma fatty acids in a Singaporean Chinese population.” Genes & Nutrition 10(6):53 (2015)
Allele C
OR 0.15
p 4.0e-68
N 1,361
Large GWAS
East Asian

level of Phosphatidylcholine (16:0_18:2) in blood serum

Tabassum R et al. “Lipidome- and Genome-Wide Study to Understand Sex Differences in Circulatory Lipids.” Journal of the American Heart Association 11(19):e027103 (2022)
Allele A
OR 0.33
p 2.0e-49
N 4,642
Large GWAS
European

high density lipoprotein cholesterol measurement

Richardson TG et al. “Characterising metabolomic signatures of lipid-modifying therapies through drug target mendelian randomisation.” Plos Biology 20(2):e3001547 (2022)
Allele C
OR 0.04
p 1.0e-18
N 115,082
Large GWAS
European
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 —
β 0.027
p 2.0e-11
N 94,674
Large GWAS
multi-ancestry

iron biomarker measurement, transferrin measurement

Benyamin B et al. “Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis.” Nature Communications 5:4926 (2014)
Allele A
OR 0.06
p 2.0e-17
N 23,986
Large GWAS
European

glucose measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.02
p 4.0e-17
N 394,642
Large GWAS
European
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Research that mentions this SNP (1)

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Association of glycosylated hemoglobin with the gene encoding CDKAL1 in the Korean Association Resource (KARE) study
Meta-analysisN=159,940Jihye Ryu et al.(2012)· Human Mutation

Transethnic genome-wide meta-analysis in 159,940 individuals identified 60 common genetic variants associated with HbA1c levels. Variants were classified as glycemic (19), erythrocytic (22), or unclassified (19) based on their biological mechanisms. Glycemic variants were associated with higher type 2 diabetes risk (OR=1.05 per allele, p=3×10⁻²⁹), while erythrocytic variants were not. The X-linked G6PD G202A variant showed a large effect in African Americans (0.81% HbA1c reduction per allele) but minimal effects in other ancestries, potentially causing 2% of African American T2D cases to remain undiagnosed when using HbA1c screening.

Traits studied:2-hour glucoseErythrocytic traitsFasting glucoseGlycemic traitsHemoglobin A1c (HbA1c)Type 2 diabetes
PubMedDOIMetascience Observatory

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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