rs7919

This variant is located in the COG4 gene.

GWAS Catalog Trait Associations (2)

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

body mass index

Sidorenko J et al. Genetic architecture reconciles linkage and association studies of complex traits. Nature Genetics 56(11):2352-2360 (2024)
Allele A
OR 0.01
p 1.0e-15
N 650,000
Large GWAS
European
Harris BHL et al. New role of fat-free mass in cancer risk linked with genetic predisposition. Scientific Reports 14(1):7270 (2024)
Allele A
OR 0.02
p 2.0e-11
N 342,566
Large GWAS
European

Abnormality of the skeletal system

Allele C
OR 0.01
p 3.0e-12
N 394,642
Large GWAS
European

ClinVar annotation

Benign★★★
2 submitters1 publication
View on ClinVar →

About COG4

The protein encoded by this gene is a component of an oligomeric protein complex involved in the structure and function of the Golgi apparatus. Defects in this gene may be a cause of congenital disorder of glycosylation type IIj. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Aug 2010]

View all COG4 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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