rs174556

This is a downstream gene variant variant in the FADS1 gene.

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GWAS Catalog Trait Associations (36)

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

level of Phosphatidylethanolamine (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 T
OR 0.37
p 2.0e-61
N 4,642
Large GWAS
European

Red cell distribution width

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele C
OR 0.05
p 2.0e-56
N 548,926
Major Consortium StudyLarge GWAS
multi-ancestry

level of Phosphatidylethanolamine (O-18:2_20:4) 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 T
OR 0.18
p 4.0e-26
N 7,154
Large GWAS
European

eicosapentaenoate EPA; 20:5n3 measurement

Shin SY et al. “An atlas of genetic influences on human blood metabolites.” Nature Genetics 46(6):543-550 (2014)
Allele T
OR —
β 0.036
p 2.0e-22
N 7,816
Large GWAS
European

serum metabolite level

Feofanova EV et al. “A Genome-wide Association Study Discovers 46 Loci of the Human Metabolome in the Hispanic Community Health Study/Study of Latinos.” American Journal of Human Genetics 107(5):849-863 (2020)
Allele C
OR 0.24
p 6.0e-22
N 3,926
Large GWAS
Hispanic or Latin American

1-stearyl-GPC (O-18:0) 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 0.10
p 2.0e-20
N 14,296
Large GWAS
European

level of Phosphatidylcholine (14:0_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 T
OR 0.21
p 8.0e-20
N 4,642
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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