rs17094448

This is a intron variant variant in the ENTPD5 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

Emilsson V et al. “Co-regulatory networks of human serum proteins link genetics to disease.” Science (new York, N.y.) 361(6404):769-773 (2018)

Allele A

OR 1.10

p 9.0e-94

N 3,200

Large GWAS

European

ectonucleoside triphosphate diphosphohydrolase 5 measurement

Suhre K et al. “Connecting genetic risk to disease end points through the human blood plasma proteome.” Nature Communications 8:14357 (2017)

Allele G

OR 1.34

p 1.0e-60

N 997

Small GWAS

multi-ancestry

About ENTPD5

The protein encoded by this gene is similar to E-type nucleotidases (NTPases)/ecto-ATPase/apyrases. NTPases, such as CD39, mediate catabolism of extracellular nucleotides. ENTPD5 contains 4 apyrase-conserved regions which is characteristic of NTPases. [provided by RefSeq, Jan 2009]

View all ENTPD5 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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