rs60422751

This is a upstream gene variant variant in the A4GALT gene.

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GWAS Catalog Trait Associations (1)

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

lactosyl-N-behenoyl-sphingosine (d18:1/22:0) measurement

Feofanova EV et al. “Whole-Genome Sequencing Analysis of Human Metabolome in Multi-Ethnic Populations.” Nature Communications 14(1):3111 (2023)

Allele C

OR 0.54

p 2.0e-35

N 3,052

Large GWAS

multi-ancestry

Schlosser P et al. “Genetic studies of paired metabolomes reveal enzymatic and transport processes at the interface of plasma and urine.” Nature Genetics 55(6):995-1008 (2023)

Allele C

OR 0.27

p 4.0e-30

N 4,401

Large GWAS

European

About A4GALT

The protein encoded by this gene catalyzes the transfer of galactose to lactosylceramide to form globotriaosylceramide, which has been identified as the P(k) antigen of the P blood group system. This protein, a type II membrane protein found in the Golgi, is also required for the synthesis of the bacterial verotoxins receptor. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2015]

View all A4GALT variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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