rs174592

This is a intron variant variant in the FADS2 gene.

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GWAS Catalog Trait Associations (26)

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

level of Phosphatidylcholine (16:0_20:2) 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 G
OR 0.26
p 5.0e-54
N 7,135
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 G
OR 0.27
p 6.0e-22
N 2,624
Large GWAS
European

1,2-dipalmitoyl-GPC (16:0/16:0) 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 G
OR 0.24
p 1.0e-38
N 6,136
Large GWAS
European

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 G
OR 0.34
p 6.0e-34
N 2,624
Large GWAS
European

balding measurement

Yap CX et al. “Dissection of genetic variation and evidence for pleiotropy in male pattern baldness.” Nature Communications 9(1):5407 (2018)
Allele G
OR 0.03
p 7.0e-22
N 205,327
Large GWAS
European

level of Phosphatidylcholine (18:0_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 G
OR 0.27
p 1.0e-21
N 2,624
Large GWAS
European

free cholesterol:total lipids ratio, blood VLDL cholesterol amount, chylomicron amount

Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele A
OR 0.04
p 4.0e-18
N 126,671
Large GWAS
multi-ancestry

phospholipids:total lipids ratio, blood VLDL cholesterol amount, chylomicron amount

Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele A
OR 0.04
p 4.0e-16
N 126,671
Large GWAS
multi-ancestry

bipolar disorder

Mullins N et al. “Genome-wide association study of more than 40,000 bipolar disorder cases provides new insights into the underlying biology.” Nature Genetics 53(6):817-829 (2021)
Allele A
OR 0.93
p 1.0e-13
N 413,466
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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