rs2267161

This is a variant in the GAL3ST1 gene that changes a valine to an methionine.

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GWAS Catalog Trait Associations (8)

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

white matter integrity

Smith SM et al. “An expanded set of genome-wide association studies of brain imaging phenotypes in UK Biobank.” Nature Neuroscience 24(5):737-745 (2021)
Allele T
OR 0.08
p 2.0e-14
N 20,860
Major Consortium StudyLarge GWAS
European

mean fractional anisotropy measurement

Smith SM et al. “An expanded set of genome-wide association studies of brain imaging phenotypes in UK Biobank.” Nature Neuroscience 24(5):737-745 (2021)
Allele T
OR 0.08
p 9.0e-14
N 20,860
Major Consortium StudyLarge GWAS
European

brain volume

Smith SM et al. “An expanded set of genome-wide association studies of brain imaging phenotypes in UK Biobank.” Nature Neuroscience 24(5):737-745 (2021)
Allele T
OR 0.07
p 8.0e-11
N 22,133
Major Consortium StudyLarge GWAS
European

amount of iron in brain

Casanova F et al. “MRI-derived brain iron, grey matter volume, and risk of dementia and Parkinson's disease: Observational and genetic analysis in the UK Biobank cohort.” Neurobiology of Disease 197:106539 (2024)
Allele C
OR 0.06
p 2.0e-15
N 39,533
Major Consortium StudyLarge GWAS
European

neuroimaging measurement

Bhatt RR et al. “The Genetic Architecture of the Human Corpus Callosum and its Subregions.” Nature Communications 16(1):9708 (2025)
Allele T
OR 1.65
p 6.0e-13
N 46,685
Large GWAS
European
Smith SM et al. “An expanded set of genome-wide association studies of brain imaging phenotypes in UK Biobank.” Nature Neuroscience 24(5):737-745 (2021)
Allele T
OR 0.07
p 3.0e-11
N 20,859
Major Consortium StudyLarge GWAS
European
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ClinVar annotation

Benign★★★☆
2 submitters1 publication
View on ClinVar →

About GAL3ST1

Sulfonation, an important step in the metabolism of many drugs, xenobiotics, hormones, and neurotransmitters, is catalyzed by sulfotransferases. This gene encodes galactosylceramide sulfotransferase, which catalyzes the sulfation of membrane glycolipids including the final step in the synthesis of sulfatide, a major lipid component of the myelin sheath. This gene exhibits elevated expression in ovarian epithelial carcinoma and the encoded enzyme exhibits elevated activity in renal cell carcinoma. Mutations in this gene may be associated with reduced insulin resistance. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]

View all GAL3ST1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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