rs944002
This is a intron variant variant in the EXOC3L4 gene.
▶GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
serum gamma-glutamyl transferase measurement
Chambers JC et al. “Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.” Nature Genetics 43(11):1131-8 (2011)
Allele G
OR 6.30
p 6.0e-29
N 61,089
Large GWAS
multi-ancestry
Middelberg RP et al. “Loci affecting gamma-glutamyl transferase in adults and adolescents show age × SNP interaction and cardiometabolic disease associations.” Human Molecular Genetics 21(2):446-55 (2012)
Allele G
OR 0.13
p 5.0e-13
N 12,526
Large GWAS
European
platelet volume
Gieger C et al. “New gene functions in megakaryopoiesis and platelet formation.” Nature 480(7376):201-8 (2011)
Allele A
OR 0.01
p 5.0e-11
N 18,600
Large GWAS
European
platelet count
Jee YH et al. “Genome-wide association studies in a large Korean cohort identify quantitative trait loci for 36 traits and illuminate their genetic architectures.” Nature Communications 16(1):4935 (2025)
Allele A
OR 0.06
p 4.0e-42
N 153,950
Large GWAS
East Asian
Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele A
OR 0.04
p 3.0e-28
N 148,623
Large GWAS
East Asian
About EXOC3L4
Predicted to enable SNARE binding activity. Predicted to be involved in exocyst localization and exocytosis. Predicted to be part of exocyst. [provided by Alliance of Genome Resources, Jul 2025]
View all EXOC3L4 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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