rs4494297
This is a intron variant variant in the EXT2 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
Hughes DA et al. “Genome-wide associations of human gut microbiome variation and implications for causal inference analyses.” Nature Microbiology 5(9):1079-1087 (2020)
Allele T
OR 1.94
p 7.0e-10
N 2,223
Large GWAS
European
About EXT2
This gene encodes one of two glycosyltransferases involved in the chain elongation step of heparan sulfate biosynthesis. Mutations in this gene cause the type II form of multiple exostoses. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jul 2008]
View all EXT2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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