rs499368
This is a intron variant variant in the SLC6A12 gene.
▶GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
plasma betaine measurement
Hysi PG et al. “Metabolome Genome-Wide Association Study Identifies 74 Novel Genomic Regions Influencing Plasma Metabolites Levels.” Metabolites 12(1) (2022)
Allele T
OR 0.17
p 2.0e-31
N 8,809
Large GWAS
European
Shin SY et al. “An atlas of genetic influences on human blood metabolites.” Nature Genetics 46(6):543-550 (2014)
Allele T
OR —
β 0.019
p 8.0e-13
N 7,806
Large GWAS
European
insulin sensitivity measurement
Xie W et al. “Genetic variants associated with glycine metabolism and their role in insulin sensitivity and type 2 diabetes.” Diabetes 62(6):2141-50 (2013)
Allele A
OR 0.36
p 2.0e-10
N 1,004
Large GWAS
European
About SLC6A12
Enables gamma-aminobutyric acid:sodium:chloride symporter activity. Involved in gamma-aminobutyric acid transport and monocarboxylic acid transport. Predicted to be located in basolateral plasma membrane. Predicted to be active in cell projection and plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]
View all SLC6A12 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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