rs41274865

This variant is located in the GALT gene.

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GWAS Catalog Trait Associations (1)

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

interleukin-11 receptor subunit alpha measurement

Gudjonsson A et al. “A genome-wide association study of serum proteins reveals shared loci with common diseases.” Nature Communications 13(1):480 (2022)

Allele C

OR 0.51

p 7.0e-50

N 5,354

Large GWAS

European

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ClinVar annotation

Conflicting Classifications

11 submitters5 publications

Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase; not specified; Galactosemia; not provided

View on ClinVar →

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Research that mentions this SNP (1)

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Case reportN=39Unknown

A mutation analysis of the GALT gene (galactose-1-phosphate uridyltransferase) in 37 unrelated Czech and Slovak galactosemia families identified 16 sequence variations across 11 mutated alleles, with Q188R being the most common (46.0%) and K285N accounting for 25.7% of mutant alleles. Six novel mutations were discovered: X380R (c.1138 T→C, a stop codon mutation causing protein elongation), Y209S, E340K, L74fsdelCT, Q169K, and L256/P257delGCC, along with previously described variants V151A, L195P, and R204X. The study achieved a 95.9% mutation detection rate and confirmed the molecular heterogeneity of classical galactosemia.

Traits studied:Classical galactosemiaDuarte variant galactosemiaGalactosemia

DOI Metascience Observatory

About GALT

Galactose-1-phosphate uridyl transferase (GALT) catalyzes the second step of the Leloir pathway of galactose metabolism, namely the conversion of UDP-glucose + galactose-1-phosphate to glucose-1-phosphate + UDP-galactose. The absence of this enzyme results in classic galactosemia in humans and can be fatal in the newborn period if lactose is not removed from the diet. The pathophysiology of galactosemia has not been clearly defined. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]