rs17052030

This variant is located in the RAB39B gene.

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GWAS Catalog Trait Associations (1)

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

pyruvate measurement

Nemkov T et al. “Biological and genetic determinants of glycolysis: Phosphofructokinase isoforms boost energy status of stored red blood cells and transfusion outcomes.” Cell Metabolism 36(9):1979-1997.e13 (2024)

Allele T

OR 0.35

p 4.0e-27

N 11,334

Large GWAS

multi-ancestry

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ClinVar annotation

Benign★☆☆☆

1 submitter

Intellectual disability, X-linked 72

View on ClinVar →

About RAB39B

This gene encodes a member of the Rab family of proteins. Rab proteins are small GTPases that are involved in vesicular trafficking. Mutations in this gene are associated with X-linked cognitive disability. [provided by RefSeq, Aug 2013]

View all RAB39B variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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