rs28507491

This is a intron variant variant in the FAM47E gene.

GWAS Catalog Trait Associations (14)

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

free cholesterol to total lipids in large LDL percentage

Zoodsma M et al. A genetic map of human metabolism across the allele frequency spectrum. Nature Genetics 57(10):2445-2455 (2025)
Allele A
OR 0.02
p 2.0e-23
N 450,015
Large GWAS
multi-ancestry

level of C4b-binding protein beta chain in blood

Allele A
OR 0.05
p 3.0e-23
N 47,745
Large GWAS
European

HDL particle size

Zoodsma M et al. A genetic map of human metabolism across the allele frequency spectrum. Nature Genetics 57(10):2445-2455 (2025)
Allele A
OR 0.01
p 3.0e-14
N 450,015
Large GWAS
multi-ancestry

blood protein amount

Allele A
OR 0.04
p 1.0e-12
N 47,745
Large GWAS
European

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 A
OR 0.01
p 1.0e-12
N 450,015
Large GWAS
multi-ancestry

cholesteryl esters in 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 A
OR 0.01
p 2.0e-12
N 450,015
Large GWAS
multi-ancestry

cholesterol in 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 A
OR 0.01
p 6.0e-12
N 450,015
Large GWAS
multi-ancestry

concentration of large HDL particles measurement

Zoodsma M et al. A genetic map of human metabolism across the allele frequency spectrum. Nature Genetics 57(10):2445-2455 (2025)
Allele A
OR 0.01
p 7.0e-12
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 A
OR 0.01
p 1.0e-11
N 450,015
Large GWAS
multi-ancestry

concentration of very large HDL particles measurement

Zoodsma M et al. A genetic map of human metabolism across the allele frequency spectrum. Nature Genetics 57(10):2445-2455 (2025)
Allele A
OR 0.01
p 1.0e-11
N 450,015
Large GWAS
multi-ancestry

About FAM47E

Enables enzyme activator activity. Involved in protein localization to chromatin and transcription initiation-coupled chromatin remodeling. Located in chromatin; cytoplasm; and nucleus. [provided by Alliance of Genome Resources, Jul 2025]

View all FAM47E variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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