rs3755636

This variant is located in the PCCB gene.

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GWAS Catalog Trait Associations (6)

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

total lipids in large VLDL

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele C
OR 0.04
p 4.0e-53
N 450,015
Large GWAS
multi-ancestry

concentration of small VLDL particles

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele C
OR 0.02
p 1.0e-21
N 450,015
Large GWAS
multi-ancestry

phospholipids:total lipids ratio

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele C
OR 0.02
p 2.0e-14
N 450,015
Large GWAS
multi-ancestry

metabolic disease

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 0.05
p 9.0e-14
N 426,570
Major Consortium StudyLarge GWAS
European

triglycerides to total lipids in large VLDL percentage

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele C
OR 0.02
p 7.0e-13
N 450,015
Large GWAS
multi-ancestry

hyperlipidemia

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 0.04
p 3.0e-11
N 602,872
Major Consortium StudyLarge GWAS
multi-ancestry
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ClinVar annotation

Benign★☆☆☆
1 submitter
View on ClinVar →

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]

View all PCCB variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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