rs183142321
This is a intron variant variant in the CNTNAP5 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.
gut microbiome measurement, bone tissue density
Cheng B et al. “Gut microbiota is associated with bone mineral density : an observational and genome-wide environmental interaction analysis in the UK Biobank cohort.” Bone & Joint Research 10(11):734-741 (2021)
Allele A
OR 0.67
p 5.0e-11
N 2,293
Major Consortium StudyLarge GWAS
European
About CNTNAP5
This gene product belongs to the neurexin family, members of which function in the vertebrate nervous system as cell adhesion molecules and receptors. This protein, like other neurexin proteins, contains epidermal growth factor repeats and laminin G domains. In addition, it includes an F5/8 type C domain, discoidin/neuropilin- and fibrinogen-like domains, and thrombospondin N-terminal-like domains. [provided by RefSeq, Jul 2008]
View all CNTNAP5 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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