rs62246276
This is a upstream gene variant variant in the SETD5 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.
irritable bowel syndrome
Alemany S et al. “Genome-wide multi-trait analysis of irritable bowel syndrome and related mental conditions identifies 38 new independent variants.” Journal of Translational Medicine 21(1):272 (2023)
Allele T
OR 0.01
p 2.0e-8
N 887,490
Large GWAS
European
About SETD5
This function of this gene has yet to be determined but based on sequence similarity to other SET domain proteins it may function as a histone methyltransferase. Mutations in this gene have been associated with an autosomal dominant form of intellectual disability. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2017]
View all SETD5 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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