rs1044573

This is a downstream gene variant variant in the ENTPD6 gene.

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GWAS Catalog Trait Associations (1)

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

low density lipoprotein cholesterol measurement

Klimentidis YC et al. “Phenotypic and Genetic Characterization of Lower LDL Cholesterol and Increased Type 2 Diabetes Risk in the UK Biobank.” Diabetes 69(10):2194-2205 (2020)

Allele A

OR 0.01

p 4.0e-13

N 431,167

Major Consortium StudyLarge GWAS

European

Graham SE et al. “The power of genetic diversity in genome-wide association studies of lipids.” Nature 600(7890):675-679 (2021)

Allele A

OR 0.01

p 3.0e-10

N 1,320,016

Large GWAS

European

About ENTPD6

ENTPD6 is similar to E-type nucleotidases (NTPases). NTPases, such as CD39, mediate catabolism of extracellular nucleotides. ENTPD6 contains 4 apyrase-conserved regions which are characteristic of NTPases. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]

View all ENTPD6 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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