rs2645430
This variant is located in the FDFT1 gene.
▶GWAS Catalog Trait Associations (8)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (8)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
free cholesterol in very large HDL measurement
Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele G
OR 0.03
p 9.0e-43
N 450,015
Large GWAS
multi-ancestry
cholesterol in very large HDL measurement
Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele G
OR 0.02
p 6.0e-31
N 450,015
Large GWAS
multi-ancestry
free cholesterol to total lipids in very large VLDL percentage
Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele G
OR 0.02
p 1.0e-20
N 450,015
Large GWAS
multi-ancestry
3-hydroxybutyrate measurement
Richardson TG et al. “Characterising metabolomic signatures of lipid-modifying therapies through drug target mendelian randomisation.” Plos Biology 20(2):e3001547 (2022)
Allele A
OR 0.03
p 7.0e-14
N 113,594
Large GWAS
European
BMI-adjusted waist circumference
Christakoudi S et al. “GWAS of allometric body-shape indices in UK Biobank identifies loci suggesting associations with morphogenesis, organogenesis, adrenal cell renewal and cancer.” Scientific Reports 11(1):10688 (2021)
Allele A
OR 0.02
p 3.0e-12
N 186,825
Major Consortium StudyLarge GWAS
European
BMI-adjusted waist-hip ratio
Christakoudi S et al. “GWAS of allometric body-shape indices in UK Biobank identifies loci suggesting associations with morphogenesis, organogenesis, adrenal cell renewal and cancer.” Scientific Reports 11(1):10688 (2021)
Allele A
OR 0.02
p 5.0e-11
N 186,825
Major Consortium StudyLarge GWAS
European
neuroticism measurement
Hill WD et al. “Genetic contributions to two special factors of neuroticism are associated with affluence, higher intelligence, better health, and longer life.” Molecular Psychiatry 25(11):3034-3052 (2020)
Allele A
OR 0.01
p 4.0e-9
N 270,059
Large GWAS
European
monocyte count
Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele G
OR 0.01
p 2.0e-8
N 444,975
Large GWAS
multi-ancestry
About FDFT1
This gene encodes a membrane-associated enzyme located at a branch point in the mevalonate pathway. The encoded protein is the first specific enzyme in cholesterol biosynthesis, catalyzing the dimerization of two molecules of farnesyl diphosphate in a two-step reaction to form squalene. [provided by RefSeq, Jul 2008]
View all FDFT1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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