rs75287757
This is a protein-altering variant in the SUSD5 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 1.0e-15
N 2,428
Large GWAS
European
About SUSD5
Predicted to enable hyaluronic acid binding activity. Predicted to be involved in Notch signaling pathway. Predicted to be located in membrane. [provided by Alliance of Genome Resources, Jul 2025]
View all SUSD5 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
Community Wiki
No community notes yet for this variant. Sign in to start one.
Comments
Sign in to join the discussion.
Loading comments…