rs28362581

This variant is located in the AMPD2 gene.

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GWAS Catalog Trait Associations (1)

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

apolipoprotein B measurement

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)

Allele A

OR 0.03

p 2.0e-10

N 354,097

Major Consortium StudyLarge GWAS

multi-ancestry

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ClinVar annotation

Likely Benign★★★☆

5 submitters2 publications

not specified; Pontocerebellar hypoplasia type 9;Hereditary spastic paraplegia 63; not provided; Hereditary spastic paraplegia 63; Pontocerebellar hypoplasia type 9

View on ClinVar →

About AMPD2

The protein encoded by this gene is important in purine metabolism by converting AMP to IMP. The encoded protein, which acts as a homotetramer, is one of three AMP deaminases found in mammals. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]

View all AMPD2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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