rs3130632

This is a upstream gene variant variant in the NCR3 gene.

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GWAS Catalog Trait Associations (2)

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

BMI-adjusted waist circumference

Christakoudi S et al. “GWAS of allometric body-shape indices in UK Biobank identifies loci suggesting associations with morphogenesis, organogenesis, adrenal cell renewal and cancer.” Scientific Reports 11(1):10688 (2021)

Allele T

OR 0.02

p 7.0e-11

N 219,872

Major Consortium StudyLarge GWAS

European

BMI-adjusted waist-hip ratio

Allele T

OR 0.02

p 1.0e-10

N 219,872

Major Consortium StudyLarge GWAS

European

About NCR3

The protein encoded by this gene is a natural cytotoxicity receptor (NCR) that may aid NK cells in the lysis of tumor cells. The encoded protein interacts with CD3-zeta (CD247), a T-cell receptor. A single nucleotide polymorphism in the 5' untranslated region of this gene has been associated with mild malaria suceptibility. Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2010]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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