rs3811695

This variant is located in the GMPPB gene.

GWAS Catalog Trait Associations (1)

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

ClinVar annotation

Benign☆☆☆
1 submitter
View on ClinVar →

About GMPPB

This gene is thought to encode a GDP-mannose pyrophosphorylase. The encoded protein catalyzes the conversion of mannose-1-phosphate and GTP to GDP-mannose, a reaction involved in the production of N-linked oligosaccharides. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jan 2009]

View all GMPPB variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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