rs73597578

This variant is located in the CARMIL2 gene.

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GWAS Catalog Trait Associations (1)

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

triglyceride 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 T

OR 0.03

p 3.0e-22

N 125,000

Large GWAS

African American or Afro-Caribbean, Sub-Saharan African, African unspecified

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ClinVar annotation

Benign★☆☆☆

1 submitter1 publication

not specified

View on ClinVar →

About CARMIL2

This gene encodes a member of the CARMIL (capping protein, Arp2/3, myosin-I linker) family of proteins. The encoded protein interacts with and negatively regulates the heterodimeric capping protein and promotes cell migration. Reduced expression of this gene has been observed in human psoriasis patients. Mutations in this gene cause a human immunodeficiency syndrome characterized by smooth muscle tumors and impaired T-cell function. [provided by RefSeq, May 2017]

View all CARMIL2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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