rs174555

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

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GWAS Catalog Trait Associations (37)

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

omega-6 polyunsaturated fatty acid measurement

Guan W et al. “Genome-wide association study of plasma N6 polyunsaturated fatty acids within the cohorts for heart and aging research in genomic epidemiology consortium.” Circulation. Cardiovascular Genetics 7(3):321-331 (2014)
Allele T
OR 0.39
p 5.0e-168
N 8,631
Major Consortium StudyLarge GWAS
European

level of phosphatidylcholine

Lotta LA et al. “A cross-platform approach identifies genetic regulators of human metabolism and health.” Nature Genetics 53(1):54-64 (2021)
Allele C
OR 19.35
p 2.0e-83
N 16,838
Large GWAS
European
Harshfield EL et al. “Genome-wide analysis of blood lipid metabolites in over 5000 South Asians reveals biological insights at cardiometabolic disease loci.” Bmc Medicine 19(1):232 (2021)
Allele C
OR 0.10
p 2.0e-17
N 5,662
Large GWAS
South Asian

1,2-dilinoleoyl-GPC (18:2/18:2) 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 C
OR 0.31
p 3.0e-60
N 6,136
Large GWAS
European

1-linoleoyl-2-linolenoyl-GPC (18:2/18:3) 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-55
N 6,136
Large GWAS
European

Sphingomyelin (d18:1/18:1, d18:2/18:0) 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 0.17
p 1.0e-53
N 14,296
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 T
OR 0.05
p 1.0e-51
N 548,841
Major Consortium StudyLarge GWAS
multi-ancestry

platelet count

Kachuri L et al. “Genetic determinants of blood-cell traits influence susceptibility to childhood acute lymphoblastic leukemia.” American Journal of Human Genetics 108(10):1823-1835 (2021)
Allele T
OR —
p 1.0e-44
N 235,256
Large GWAS
European

Sphingomyelin (d18:1/20:1, d18:2/20:0) 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 0.13
p 3.0e-30
N 14,296
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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