rs9844666

This is a intron variant variant in the PCCB gene.

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GWAS Catalog Trait Associations (3)

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

body height

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)

Allele G

OR 0.06

p 6.0e-32

N 607,511

Major Consortium StudyLarge GWAS

multi-ancestry

Lango Allen H et al. “Hundreds of variants clustered in genomic loci and biological pathways affect human height.” Nature 467(7317):832-8 (2010)

Allele G

OR —

β 0.024

p 4.0e-9

N 133,653

Large GWAS

European

body mass index

Huang J et al. “Genomics and phenomics of body mass index reveals a complex disease network.” Nature Communications 13(1):7973 (2022)

Allele G

OR 0.01

p 4.0e-20

N 1,122,049

Large GWAS

European

Sidorenko J et al. “Genetic architecture reconciles linkage and association studies of complex traits.” Nature Genetics 56(11):2352-2360 (2024)

Allele G

OR 0.01

p 2.0e-9

N 650,000

Large GWAS

European

gait quality

Timmins IR et al. “Genome-wide association study of self-reported walking pace suggests beneficial effects of brisk walking on health and survival.” Communications Biology 3(1):634 (2020)

Allele G

OR 0.01

p 3.0e-8

N 450,967

Large GWAS

European

About PCCB

The protein encoded by this gene is a subunit of the propionyl-CoA carboxylase (PCC) enzyme, which is involved in the catabolism of propionyl-CoA. PCC is a mitochondrial enzyme that probably acts as a dodecamer of six alpha subunits and six beta subunits. This gene encodes the beta subunit of PCC. Defects in this gene are a cause of propionic acidemia type II (PA-2). Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2010]

rs9844666

GWAS Catalog Trait Associations (3)

body height

body mass index

gait quality

About PCCB

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