rs2239785

This is a variant in the APOL1 gene that changes a glutamate to an lysine.

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GWAS Catalog Trait Associations (2)

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

apolipoprotein L1 measurement

Thareja G et al. “Differences and commonalities in the genetic architecture of protein quantitative trait loci in European and Arab populations.” Human Molecular Genetics 32(6):907-916 (2023)

Allele G

OR 0.42

p 1.0e-44

N 2,935

Large GWAS

Greater Middle Eastern (Middle Eastern, North African or Persian)

Surapaneni A et al. “Identification of 969 protein quantitative trait loci in an African American population with kidney disease attributed to hypertension.” Kidney International 102(5):1167-1177 (2022)

Allele G

OR 0.74

p 1.0e-40

N 466

Small GWAS

African American or Afro-Caribbean

focal segmental glomerulosclerosis

Genovese G et al. “A risk allele for focal segmental glomerulosclerosis in African Americans is located within a region containing APOL1 and MYH9.” Kidney International 78(7):698-704 (2010)

Allele G

OR —

p 5.0e-13

N 3,407

Large GWAS

multi-ancestry

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ClinVar annotation

Benign★★★☆

4 submitters2 publications

not specified

View on ClinVar →

About APOL1

This gene encodes a secreted high density lipoprotein which binds to apolipoprotein A-I. Apolipoprotein A-I is a relatively abundant plasma protein and is the major apoprotein of HDL. It is involved in the formation of most cholesteryl esters in plasma and also promotes efflux of cholesterol from cells. This apolipoprotein L family member may play a role in lipid exchange and transport throughout the body, as well as in reverse cholesterol transport from peripheral cells to the liver. Several different transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008]

rs2239785

GWAS Catalog Trait Associations (2)

apolipoprotein L1 measurement

focal segmental glomerulosclerosis

ClinVar annotation

About APOL1

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