rs3211938

This is a stop gained variant in the CD36 gene.

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GWAS Catalog Trait Associations (19)

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

Red cell distribution width

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 T
OR 0.20
p 2.0e-121
N 110,610
Major Consortium StudyLarge GWAS
African American or Afro-Caribbean
Hu Y et al. “Whole-genome sequencing association analysis of quantitative red blood cell phenotypes: The NHLBI TOPMed program.” American Journal of Human Genetics 108(5):874-893 (2021)
Allele T
OR 0.31
p 1.0e-13
N 28,982
Large GWAS
multi-ancestry

platelet glycoprotein 4 level

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 1.39
p 2.0e-45
N 466
Small GWAS
African American or Afro-Caribbean

leukocyte quantity

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 T
OR 0.10
p 5.0e-37
N 108,942
Major Consortium StudyLarge GWAS
African American or Afro-Caribbean

triglyceride measurement

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 T
OR 0.08
p 2.0e-24
N 107,786
Major Consortium StudyLarge GWAS
African American or Afro-Caribbean
Kamiza AB et al. “Multi-trait discovery and fine-mapping of lipid loci in 125,000 individuals of African ancestry.” Nature Communications 14(1):5403 (2023)
Allele T
OR 0.04
p 1.0e-17
N 125,000
Large GWAS
African American or Afro-Caribbean, Sub-Saharan African, African unspecified

total cholesterol measurement

Kamiza AB et al. “Multi-trait discovery and fine-mapping of lipid loci in 125,000 individuals of African ancestry.” Nature Communications 14(1):5403 (2023)
Allele G
OR 0.06
p 2.0e-18
N 125,000
Large GWAS
African American or Afro-Caribbean, Sub-Saharan African, African unspecified

alkaline phosphatase measurement

Sun Q et al. “Analyses of biomarker traits in diverse UK biobank participants identify associations missed by European-centric analysis strategies.” Journal of Human Genetics 67(2):87-93 (2022)
Allele G
OR 0.20
p 1.0e-14
N 9,354
Major Consortium StudyLarge GWAS
African unspecified

monocyte count

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 T
OR 0.06
p 5.0e-12
N 73,142
Major Consortium StudyLarge GWAS
African American or Afro-Caribbean

QT interval

Young WJ et al. “Genetic analyses of the electrocardiographic QT interval and its components identify additional loci and pathways.” Nature Communications 13(1):5144 (2022)
Allele T
OR 0.12
p 6.0e-10
N 252,730
Large GWAS
European, African unspecified, Hispanic or Latin American, South East Asian, South Asian
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ClinVar annotation

Risk Factor★★★☆
4 submitters4 publications

Malaria, cerebral, susceptibility to; Platelet-type bleeding disorder 10; not specified

View on ClinVar →

About CD36

The protein encoded by this gene is the fourth major glycoprotein of the platelet surface and serves as a receptor for thrombospondin in platelets and various cell lines. Since thrombospondins are widely distributed proteins involved in a variety of adhesive processes, this protein may have important functions as a cell adhesion molecule. It binds to collagen, thrombospondin, anionic phospholipids and oxidized LDL. It directly mediates cytoadherence of Plasmodium falciparum parasitized erythrocytes and it binds long chain fatty acids and may function in the transport and/or as a regulator of fatty acid transport. Mutations in this gene cause platelet glycoprotein deficiency. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Feb 2014]

View all CD36 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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