rs6584030

This is a intron variant variant in the ENTPD1 gene.

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GWAS Catalog Trait Associations (2)

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

blood protein amount

Orrù V et al. “Complex genetic signatures in immune cells underlie autoimmunity and inform therapy.” Nature Genetics 52(10):1036-1045 (2020)

Allele C

OR 0.24

p 2.0e-21

N 3,434

Large GWAS

European

Thrombocytopenia

Yang Z et al. “Genetic basis of pregnancy-associated decreased platelet counts and gestational thrombocytopenia.” Blood 143(15):1528-1538 (2024)

Allele C

OR 0.91

p 4.0e-8

N 96,432

Large GWAS

East Asian

About ENTPD1

The protein encoded by this gene is a plasma membrane protein that hydrolyzes extracellular ATP and ADP to AMP. Inhibition of this protein's activity may confer anticancer benefits. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2015]

View all ENTPD1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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