rs144223004
This is a protein-altering variant in the CSMD2 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.
anorectal malformation
van de Putte R et al. “Exome chip association study excluded the involvement of rare coding variants with large effect sizes in the etiology of anorectal malformations.” Plos One 14(5):e0217477 (2019)
Allele T
OR —
p 5.0e-18
N 2,428
Large GWAS
European
About CSMD2
The protein encoded by this gene is thought to be involved in the control of complement cascade of the immune system. Defects in this gene have been associated with schizophrenia. This gene may act as a tumor suppressor for colorectal cancer. [provided by RefSeq, Jan 2020]
View all CSMD2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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