rs17780834

This is a intron variant variant in the GBF1 gene.

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GWAS Catalog Trait Associations (9)

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

cholesterol to total lipids in small HDL percentage

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)

Allele T

OR 0.05

p 6.0e-42

N 450,015

Large GWAS

multi-ancestry

triglycerides in medium 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 T

OR 0.04

p 1.0e-30

N 450,015

Large GWAS

multi-ancestry

cholesterol to total lipids in very large HDL percentage

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)

Allele T

OR 0.03

p 3.0e-16

N 450,015

Large GWAS

multi-ancestry

cholesteryl esters to total lipids in very large HDL percentage

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)

Allele T

OR 0.03

p 1.0e-13

N 450,015

Large GWAS

multi-ancestry

free cholesterol to total lipids in IDL percentage

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)

Allele T

OR 0.03

p 5.0e-13

N 450,015

Large GWAS

multi-ancestry

cholesterol:total lipids ratio, high density lipoprotein cholesterol 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 0.05

p 2.0e-10

N 115,082

Large GWAS

European

low density lipoprotein cholesterol measurement, free cholesterol:total lipids ratio

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 0.05

p 1.0e-8

N 115,082

Large GWAS

European

serum alanine aminotransferase amount

Vujkovic M et al. “A multiancestry genome-wide association study of unexplained chronic ALT elevation as a proxy for nonalcoholic fatty liver disease with histological and radiological validation.” Nature Genetics 54(6):761-771 (2022)

Allele T

OR 0.09

p 2.0e-8

N 164,197

Large GWAS

European

triglyceride measurement, high density lipoprotein cholesterol 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 0.05

p 2.0e-8

N 115,082

Large GWAS

European

About GBF1

This gene encodes a member of the Sec7 domain family. The encoded protein is a guanine nucleotide exchange factor that regulates the recruitment of proteins to membranes by mediating GDP to GTP exchange. The encoded protein is localized to the Golgi apparatus and plays a role in vesicular trafficking by activating ADP ribosylation factor 1. The encoded protein has also been identified as an important host factor for viral replication. Multiple transcript variants have been observed for this gene. [provided by RefSeq, Dec 2010]

rs17780834

GWAS Catalog Trait Associations (9)

cholesterol to total lipids in small HDL percentage

triglycerides in medium HDL measurement

cholesterol to total lipids in very large HDL percentage

cholesteryl esters to total lipids in very large HDL percentage

free cholesterol to total lipids in IDL percentage

cholesterol:total lipids ratio, high density lipoprotein cholesterol measurement

low density lipoprotein cholesterol measurement, free cholesterol:total lipids ratio

serum alanine aminotransferase amount

triglyceride measurement, high density lipoprotein cholesterol measurement

About GBF1

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