rs112121671
This is a upstream gene variant variant in the PNMA5 gene.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
lactate measurement
Moore A et al. “Genome-wide metabolite quantitative trait loci analysis (mQTL) in red blood cells from volunteer blood donors.” The Journal of Biological Chemistry 298(12):102706 (2022)
Allele A
OR 1.25
p 3.0e-8
N 243
Small GWAS
About PNMA5
This gene encodes a member of the paraneoplastic Ma antigen protein family. These proteins have been implicated in the development of paraneoplastic disorders resulting from an immune response directed against them. Paraneoplastic disorders are the result of an abnormal immune response to a tumor. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Oct 2011]
View all PNMA5 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
Community Wiki
No community notes yet for this variant. Sign in to start one.
Comments
Sign in to join the discussion.
Loading comments…