rs555044
This is a regulatory region variant variant in the SLC6A13 gene.
▶GWAS Catalog Trait Associations (4)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (4)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
deoxycarnitine measurement
Feofanova EV et al. “Whole-Genome Sequencing Analysis of Human Metabolome in Multi-Ethnic Populations.” Nature Communications 14(1):3111 (2023)
Allele A
OR 0.22
p 3.0e-45
N 10,457
Large GWAS
multi-ancestry
serum metabolite level
Feofanova EV et al. “A Genome-wide Association Study Discovers 46 Loci of the Human Metabolome in the Hispanic Community Health Study/Study of Latinos.” American Journal of Human Genetics 107(5):849-863 (2020)
Allele C
OR 0.26
p 2.0e-23
N 3,926
Large GWAS
Hispanic or Latin American
Yu B et al. “Genetic determinants influencing human serum metabolome among African Americans.” Plos Genetics 10(3):e1004212 (2014)
Allele C
OR —
β 0.070
p 1.0e-12
N 1,260
Large GWAS
African American or Afro-Caribbean
1-methyl-4-imidazoleacetate measurement
Feofanova EV et al. “Whole-Genome Sequencing Analysis of Human Metabolome in Multi-Ethnic Populations.” Nature Communications 14(1):3111 (2023)
Allele A
OR 0.16
p 8.0e-21
N 8,250
Large GWAS
multi-ancestry
body height
Schoeler T et al. “Combining cross-sectional and longitudinal genomic approaches to identify determinants of cognitive and physical decline.” Nature Communications 16(1):4524 (2025)
Allele C
OR 0.01
p 6.0e-13
N 405,540
Large GWAS
European
About SLC6A13
Enables gamma-aminobutyric acid:sodium:chloride symporter activity. Involved in amino acid import across plasma membrane and monocarboxylic acid transport. Located in plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]
View all SLC6A13 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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