rs1047781

This is a variant in the FUT2 gene that changes a isoleucine to an phenylalanine.

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GWAS Catalog Trait Associations (7)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

serum carcinoembryonic antigen measurement

Choe EK et al. “Leveraging deep phenotyping from health check-up cohort with 10,000 Korean individuals for phenome-wide association study of 136 traits.” Scientific Reports 12(1):1930 (2022)

Allele T

OR 0.22

p 3.0e-81

N 7,744

Large GWAS

East Asian

Jeon S et al. “Korea4K: whole genome sequences of 4,157 Koreans with 107 phenotypes derived from extensive health check-ups.” Gigascience 13 (2024)

Allele T

OR 0.55

p 1.0e-75

N 1,916

Large GWAS

East Asian

cancer antigen 19.9 measurement

Allele T

OR 3.30

p 4.0e-53

N 7,617

Large GWAS

East Asian

cholelithiasis

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)

Allele T

OR 0.12

p 1.0e-11

N 177,558

Large GWAS

East Asian

gastric ulcer

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)

Allele T

OR 0.08

p 2.0e-8

N 648,155

Large GWAS

multi-ancestry

psoriasis

Baurecht H et al. “Genome-wide comparative analysis of atopic dermatitis and psoriasis gives insight into opposing genetic mechanisms.” American Journal of Human Genetics 96(1):104-20 (2015)

Allele C

OR 1.18

p 4.0e-8

N 12,244

Large GWAS

European

cancer biomarker measurement

He M et al. “A genome wide association study of genetic loci that influence tumour biomarkers cancer antigen 19-9, carcinoembryonic antigen and α fetoprotein and their associations with cancer risk.” Gut 63(1):143-51 (2014)

Allele T

OR 0.44

p 8.0e-176

N 3,451

Large GWAS

East Asian

Jeon S et al. “Korea4K: whole genome sequences of 4,157 Koreans with 107 phenotypes derived from extensive health check-ups.” Gigascience 13 (2024)

Allele T

OR 0.60

p 6.0e-78

N 1,920

Large GWAS

East Asian

serum alanine aminotransferase amount

Kim YJ et al. “The contribution of common and rare genetic variants to variation in metabolic traits in 288,137 East Asians.” Nature Communications 13(1):6642 (2022)

Allele A

OR 0.03

p 9.0e-13

N 288,127

Large GWAS

East Asian

Jee YH et al. “Genome-wide association studies in a large Korean cohort identify quantitative trait loci for 36 traits and illuminate their genetic architectures.” Nature Communications 16(1):4935 (2025)

Allele A

OR 0.02

p 3.0e-13

N 153,950

Large GWAS

East Asian

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ClinVar annotation

Benign★☆☆☆

3 submitters4 publications

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]

rs1047781

GWAS Catalog Trait Associations (7)

serum carcinoembryonic antigen measurement

cancer antigen 19.9 measurement

cholelithiasis

gastric ulcer

psoriasis

cancer biomarker measurement

serum alanine aminotransferase amount

ClinVar annotation

About FUT2

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