rs6135229

This is a intron variant variant in the MACROD2 gene.

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GWAS Catalog Trait Associations (1)

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

leucine-rich repeat transmembrane protein FLRT3 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 A

OR 0.61

p 5.0e-111

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 A

OR 0.84

p 2.0e-49

N 466

Small GWAS

African American or Afro-Caribbean

About MACROD2

The protein encoded by this gene is a deacetylase involved in removing ADP-ribose from mono-ADP-ribosylated proteins. The encoded protein has been shown to translocate from the nucleus to the cytoplasm upon DNA damage. [provided by RefSeq, May 2017]

View all MACROD2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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