rs7857685
This is a intron variant variant in the BNC2 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.
Inguinal hernia
Choquet H et al. “Ancestry- and sex-specific effects underlying inguinal hernia susceptibility identified in a multiethnic genome-wide association study meta-analysis.” Human Molecular Genetics 31(13):2279-2293 (2022)
Allele C
OR 0.89
p 7.0e-16
N 228,873
Meta-analysisLarge GWAS
multi-ancestry
Wei J et al. “Identification of fifty-seven novel loci for abdominal wall hernia development and their biological and clinical implications: results from the UK Biobank.” Hernia : the Journal of Hernias and Abdominal Wall Surgery 26(1):335-348 (2022)
Allele C
OR 1.12
p 4.0e-9
N 275,546
Major Consortium StudyLarge GWAS
European
About BNC2
This gene encodes a conserved zinc finger protein. The encoded protein functions in skin color saturation. Mutations in this gene are associated with facial pigmented spots. This gene is also associated with susceptibility to adolescent idiopathic scoliosis. [provided by RefSeq, Jul 2016]
View all BNC2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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