rs11715915
This variant is located in the AMT gene.
▶ClinVar annotation
not specified; Glycine encephalopathy; not provided
View on ClinVar →▶Research that mentions this SNP (1)
▶Transethnic insight into the genetics of glycaemic traits: fine-mapping results from the Population Architecture using Genomics and Epidemiology (PAGE) consortiumAssociationN=26,760Stephanie A. Bien et al.(2017)· Diabetologia
Transethnic fine-mapping study of glycaemic traits in 26,760 participants (Hispanic/Latino, African, Asian, and Native American) using the Metabochip. Replicated 31/39 fasting glucose and 14/17 fasting insulin loci from European GWAS. Identified two novel secondary signals at G6PC2-rs477224 and GCK-rs2908290, a population-specific signal at G6PC2-rs77719485 in African ancestry, and one novel locus at SLC17A2-rs75862513 for fasting insulin.
About AMT
This gene encodes one of four critical components of the glycine cleavage system. Mutations in this gene have been associated with glycine encephalopathy. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]
View all AMT variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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