rs174551

This is a intron variant variant in the FADS1 gene.

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GWAS Catalog Trait Associations (47)

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

1-stearoyl-2-linoleoyl-GPI (18:0/18:2) 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 0.21
p 1.0e-86
N 14,296
Large GWAS
European

1-eicosapentaenoyl-GPC (20:5) 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 C
OR 0.33
p 1.0e-70
N 6,136
Large GWAS
European

level of Phosphatidylcholine (16:0_22:4) in blood serum

Ottensmann L et al. “Genome-wide association analysis of plasma lipidome identifies 495 genetic associations.” Nature Communications 14(1):6934 (2023)
Allele C
OR 0.29
p 4.0e-63
N 6,874
Large GWAS
European
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 C
OR 0.25
p 5.0e-18
N 2,624
Large GWAS
European

adrenate 22:4n6 measurement

Feofanova EV et al. “Whole-Genome Sequencing Analysis of Human Metabolome in Multi-Ethnic Populations.” Nature Communications 14(1):3111 (2023)
Allele C
OR 0.28
p 1.0e-60
N 9,345
Large GWAS
multi-ancestry

low density lipoprotein cholesterol measurement

Hoffmann TJ et al. “A large electronic-health-record-based genome-wide study of serum lipids.” Nature Genetics 50(3):401-413 (2018)
Allele T
OR —
β 0.073
p 2.0e-55
N 94,674
Large GWAS
multi-ancestry
Kim YJ et al. “The contribution of common and rare genetic variants to variation in metabolic traits in 288,137 East Asians.” Nature Communications 13(1):6642 (2022)
Allele T
OR 0.04
p 4.0e-30
N 288,127
Large GWAS
East Asian
Surakka I et al. “The impact of low-frequency and rare variants on lipid levels.” Nature Genetics 47(6):589-97 (2015)
Allele T
OR 0.07
p 2.0e-27
N 62,166
Large GWAS
European

1-docosapentaenoyl-GPC (22:5n3) 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 C
OR 0.29
p 3.0e-53
N 6,136
Large GWAS
European

eicosapentaenoate (EPA; 20:5n3) 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 C
OR 0.27
p 4.0e-48
N 6,136
Large GWAS
European

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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