rs2120019

This is a intron variant variant in the PPCDC gene.

GWAS Catalog Trait Associations (1)

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

serum zinc amount

Evans DM et al. Genome-wide association study identifies loci affecting blood copper, selenium and zinc. Human Molecular Genetics 22(19):3998-4006 (2013)
Allele C
OR 0.29
p 2.0e-18
N 2,603
Large GWAS
European

About PPCDC

Biosynthesis of coenzyme A (CoA) from pantothenic acid (vitamin B5) is an essential universal pathway in prokaryotes and eukaryotes. PPCDC (EC 4.1.1.36), one of the last enzymes in this pathway, converts phosphopantothenoylcysteine to 4-prime-phosphopantetheine (Daugherty et al., 2002 [PubMed 11923312]).[supplied by OMIM, Mar 2008]

View all PPCDC variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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