rs174549

This variant is located in the FADS1 gene.

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GWAS Catalog Trait Associations (66)

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

body height

Yengo L et al. “A saturated map of common genetic variants associated with human height.” Nature 610(7933):704-712 (2022)
Allele A
OR 0.02
p 3.0e-171
N 5,314,291
Large GWAS
European, Hispanic or Latin American, East Asian, African unspecified, South Asian

1-palmitoyl-2-linoleoyl-GPE (16:0/18:2) measurement

Yin X et al. “Genome-wide association studies of metabolites in Finnish men identify disease-relevant loci.” Nature Communications 13(1):1644 (2022)
Allele A
OR 0.43
p 2.0e-119
N 6,136
Large GWAS
European

1-oleoyl-2-linoleoyl-GPE (18:1/18:2) measurement

Yin X et al. “Genome-wide association studies of metabolites in Finnish men identify disease-relevant loci.” Nature Communications 13(1):1644 (2022)
Allele A
OR 0.43
p 9.0e-112
N 6,136
Large GWAS
European

1-stearoyl-2-linoleoyl-GPI (18:0/18:2) measurement

Yin X et al. “Genome-wide association studies of metabolites in Finnish men identify disease-relevant loci.” Nature Communications 13(1):1644 (2022)
Allele A
OR 0.28
p 2.0e-51
N 6,136
Large GWAS
European

1-palmitoyl-2-linoleoyl-GPI (16:0/18:2) measurement

Yin X et al. “Genome-wide association studies of metabolites in Finnish men identify disease-relevant loci.” Nature Communications 13(1):1644 (2022)
Allele A
OR 0.25
p 2.0e-39
N 6,136
Large GWAS
European
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Research that mentions this SNP (1)

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A Genome-Wide Assessment of Variability in Human Serum Metabolism
AssociationN=891Mun-Gwan Hong et al.(2013)· Human Mutation

A genome-wide association study (GWAS) of serum metabolic quantitative trait loci (mQTLs) in 891 Swedish men identified seven replicating loci (PYROXD2, FADS1, PON1, CYP4F2, UGT1A8, ACADL, and LIPC) with variants showing significant associations with metabolite levels (P = 10^-13 to 10^-91). rs4345897:A>G in PYROXD2 showed the strongest association with caprolactam (P = 2.40 × 10^-91), while rs174549:A>G in FADS1 associated with glycerolphosphocholine (P = 1.91 × 10^-30). Pathway analysis implicated genes with acyl-CoA dehydrogenase activity (ACADS, ACADM, ACAD8, ACAD10, ACAD11, ACOXL) and mQTL SNPs were enriched across GWAS catalog regions.

Traits studied:BilirubinButyrylcarnitineCaprolactamDimethylheptanoylcarnitineGlycerolphosphocholineGlycochenodeoxycholic acidHexanoylcarnitineSerum metabolitesStearoylcarnitine
PubMedDOIMetascience Observatory

About FADS1

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 FADS1 and FADS2 at 11q12-q13.1; this cluster is thought to have arisen evolutionarily from gene duplication based on its similar exon/intron organization. [provided by RefSeq, Jul 2008]

View all FADS1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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