rs140948699

This is a splice region variant variant in the RBKS gene.

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GWAS Catalog Trait Associations (2)

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

level of ribokinase in blood

Png G et al. “Mapping the serum proteome to neurological diseases using whole genome sequencing.” Nature Communications 12(1):7042 (2021)

Allele C

OR 1.92

p 5.0e-30

N 2,917

Large GWAS

European

protein measurement

He B et al. “Genome-wide pQTL analysis of protein expression regulatory networks in the human liver.” Bmc Biology 18(1):97 (2020)

Allele G

OR —

β 0.030

p 2.0e-8

N 287

Small GWAS

multi-ancestry

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ClinVar annotation

Likely benign

View on ClinVar →

About RBKS

This gene encodes a member of the carbohydrate kinase PfkB family. The encoded protein phosphorylates ribose to form ribose-5-phosphate in the presence of ATP and magnesium as a first step in ribose metabolism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]

View all RBKS variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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