rs8127209

This variant is located in the PKNOX1 gene.

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GWAS Catalog Trait Associations (1)

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

plasma betaine measurement

Feofanova EV et al. “Whole-Genome Sequencing Analysis of Human Metabolome in Multi-Ethnic Populations.” Nature Communications 14(1):3111 (2023)

Allele C

OR 0.09

p 2.0e-11

N 11,503

Large GWAS

multi-ancestry

About PKNOX1

Enables sequence-specific double-stranded DNA binding activity. Predicted to be involved in angiogenesis. Predicted to act upstream of or within camera-type eye development; hemopoiesis; and positive regulation of transcription by RNA polymerase II. Located in cytosol and nucleus. [provided by Alliance of Genome Resources, Jul 2025]

View all PKNOX1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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