rs6722492

This variant is located in the GFPT1 gene.

GWAS Catalog Trait Associations (1)

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

Back pain

Allele T
OR 1.05
p 2.0e-17
N 981,812
Large GWAS
European

ClinVar annotation

Likely Benign☆☆☆
1 submitter3 publications

Congenital myasthenic syndrome 12

View on ClinVar →

About GFPT1

This gene encodes the first and rate-limiting enzyme of the hexosamine pathway and controls the flux of glucose into the hexosamine pathway. The product of this gene catalyzes the formation of glucosamine 6-phosphate. [provided by RefSeq, Sep 2008]

View all GFPT1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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