rs2070074

This is a variant in the GALT gene that changes a asparagine to an aspartate.

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GWAS Catalog Trait Associations (3)

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

C-C motif chemokine 27 measurement

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 0.29
p 7.0e-231
N 47,745
Large GWAS
European
Thareja G et al. “Differences and commonalities in the genetic architecture of protein quantitative trait loci in European and Arab populations.” Human Molecular Genetics 32(6):907-916 (2023)
Allele G
OR 0.42
p 6.0e-22
N 2,935
Large GWAS
Greater Middle Eastern (Middle Eastern, North African or Persian)
Png G et al. “Mapping the serum proteome to neurological diseases using whole genome sequencing.” Nature Communications 12(1):7042 (2021)
Allele G
OR 0.52
p 4.0e-37
N 2,917
Large GWAS
European

chemokine (C-C motif) ligand 27 measurement

Ahola-Olli AV et al. “Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors.” American Journal of Human Genetics 100(1):40-50 (2017)
Allele G
OR 0.45
p 2.0e-32
N 3,631
Large GWAS
European

blood protein amount

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 G
OR 0.32
p 9.0e-26
N 5,348
Large GWAS
European
Emilsson V et al. “Co-regulatory networks of human serum proteins link genetics to disease.” Science (new York, N.y.) 361(6404):769-773 (2018)
Allele G
OR 0.32
p 1.0e-14
N 3,200
Large GWAS
European
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ClinVar annotation

Pathogenic★☆☆☆
23 submitters32 publications

Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase; GALT POLYMORPHISM (DUARTE, D2); GALT POLYMORPHISM (LOS ANGELES, D1); GALT-related disorder; Galactosemia; not specified

View on ClinVar →
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Research that mentions this SNP (1)

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Association of IL23R, TNFRSF1A, and HLA-DRB1*0103 allele variants with inflammatory bowel disease phenotypes in the Finnish population
AssociationN=7,457Maarit Lappalainen et al.(2008)· Inflammatory Bowel Diseases

PhD thesis describing comprehensive genome-wide association studies of acute anterior uveitis (AAU) in European (2,752 cases, 3,836 controls) and East Asian (821 cases, 4,898 controls) populations. European descent GWAS identified HLA-B at genome-wide significance plus 11 suggestive loci (ERAP1, NOS2, MERTK). East Asian GWAS identified HLA-B and ERAP1 at genome-wide significance plus 12 suggestive loci (GPR68, RHBDD2). Mendelian randomization confirmed ERAP1 as functionally relevant and showed genetically predicted CRP levels positively associated with AAU risk.

Traits studied:Acute anterior uveitis (AAU)Ankylosing spondylitis (AS)Spondyloarthropathies
PubMedDOIMetascience 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]

View all GALT variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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