rs9622363

This is a intron variant variant in the APOL1 gene.

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GWAS Catalog Trait Associations (8)

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

anemia, chronic kidney disease

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 A
OR 0.24
p 2.0e-30
N 119,668
Major Consortium StudyLarge GWAS
African American or Afro-Caribbean

impaired renal function disease

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 A
OR 0.27
p 4.0e-30
N 626,813
Major Consortium StudyLarge GWAS
multi-ancestry

anemia (phenotype)

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 A
OR 0.16
p 4.0e-21
N 117,060
Major Consortium StudyLarge GWAS
African American or Afro-Caribbean

phosphorus metabolism disease

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 A
OR 0.33
p 1.0e-19
N 119,717
Major Consortium StudyLarge GWAS
African American or Afro-Caribbean

Abnormality of metabolism/homeostasis

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 A
OR 0.15
p 2.0e-14
N 607,460
Major Consortium StudyLarge GWAS
multi-ancestry

device complication

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 A
OR 0.22
p 1.0e-13
N 119,960
Major Consortium StudyLarge GWAS
African American or Afro-Caribbean

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 0.56
p 2.0e-12
N 2,935
Large GWAS
Greater Middle Eastern (Middle Eastern, North African or Persian)

chronic kidney disease

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 A
OR 0.21
p 1.0e-21
N 627,932
Major Consortium StudyLarge GWAS
multi-ancestry

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]

View all APOL1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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