rs113048688
This is a intron variant variant in the ERC1 gene.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
squamous cell lung carcinoma
Byun J et al. “Genome-wide association study for lung cancer in 6531 African Americans reveals new susceptibility loci.” Human Molecular Genetics 34(14):1227-1237 (2025)
Allele A
OR 4.37
p 3.0e-8
N 4,781
Large GWAS
African American or Afro-Caribbean
About ERC1
The protein encoded by this gene is a member of a family of RIM-binding proteins. RIMs are active zone proteins that regulate neurotransmitter release. This gene has been found fused to the receptor-type tyrosine kinase gene RET by gene rearrangement due to the translocation t(10;12)(q11;p13) in thyroid papillary carcinoma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
View all ERC1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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