rs2297067
This is a protein-altering variant in the EXOC3L4 gene.
▶GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
primary biliary cirrhosis
Cordell HJ et al. “International genome-wide meta-analysis identifies new primary biliary cirrhosis risk loci and targetable pathogenic pathways.” Nature Communications 6:8019 (2015)
Allele T
OR 1.39
p 6.0e-19
N 13,239
Meta-analysisLarge GWAS
European
platelet count
Gieger C et al. “New gene functions in megakaryopoiesis and platelet formation.” Nature 480(7376):201-8 (2011)
Allele T
OR 3.54
p 2.0e-10
N 48,666
Large GWAS
European
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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