rs1047781
This is a variant in the FUT2 gene that changes a isoleucine to an phenylalanine.
▶GWAS Catalog Trait Associations (7)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (7)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
▶ClinVar annotation
Familial Otitis Media; SECRETOR/NONSECRETOR POLYMORPHISM, JAPANESE TYPE
View on ClinVar →About FUT2
This gene is one of two encoding the galactoside 2-L-fucosyltransferase enzyme. The encoded protein is important for the final step in the soluble ABO blood group antigen synthesis pathway. It is also involved in cell-cell interaction, cell surface expression, and cell proliferation. Mutations in this gene are a cause of the H-Bombay blood group where red blood cells lack the H antigen. [provided by RefSeq, May 2022]
View all FUT2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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