rs77616261

This variant is located in the GCNT2 gene.

▶

GWAS Catalog Trait Associations (2)

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

level of leucine-rich repeat-containing protein 25 in blood

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)

Allele G

OR 0.43

p 2.0e-64

N 47,745

Large GWAS

European

citrate measurement

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)

Allele G

OR 0.08

p 6.0e-15

N 450,015

Large GWAS

multi-ancestry

▶

ClinVar annotation

Likely Benign★★★☆

4 submitters1 publication

not provided; GCNT2-related disorder; Colorectal cancer; Gastric cancer; Acute myeloid leukemia; Hepatocellular carcinoma; Clear cell carcinoma of kidney; Lung cancer

View on ClinVar →

About GCNT2

This gene encodes the enzyme responsible for formation of the blood group I antigen. The i and I antigens are distinguished by linear and branched poly-N-acetyllactosaminoglycans, respectively. The encoded protein is the I-branching enzyme, a beta-1,6-N-acetylglucosaminyltransferase responsible for the conversion of fetal i antigen to adult I antigen in erythrocytes during embryonic development. Mutations in this gene have been associated with adult i blood group phenotype. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]