rs1171615
This variant is located in the SLC16A9 gene.
▶GWAS Catalog Trait Associations (22)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (22)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
carnitine-to-X-12798 ratio
Shin SY et al. “An atlas of genetic influences on human blood metabolites.” Nature Genetics 46(6):543-550 (2014)
Allele T
OR 0.08
p 2.0e-95
N 5,454
Large GWAS
European
X-12798 measurement
Chen Y et al. “Genomic atlas of the plasma metabolome prioritizes metabolites implicated in human diseases.” Nature Genetics 55(1):44-53 (2023)
Allele T
OR 0.28
p 6.0e-52
N 8,186
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 0.048
p 3.0e-34
N 7,552
Large GWAS
European
propionylcarnitine (C3) measurement
Feofanova EV et al. “Whole-Genome Sequencing Analysis of Human Metabolome in Multi-Ethnic Populations.” Nature Communications 14(1):3111 (2023)
Allele T
OR 0.23
p 5.0e-42
N 10,622
Large GWAS
multi-ancestry
testosterone measurement
Venkatesh SS et al. “Genome-wide analyses identify 25 infertility loci and relationships with reproductive traits across the allele frequency spectrum.” Nature Genetics 57(5):1107-1118 (2025)
Allele C
OR 0.04
p 3.0e-31
N 235,579
Large GWAS
European
Harrison S et al. “Testosterone and socioeconomic position: Mendelian randomization in 306,248 men and women in UK Biobank.” Science Advances 7(31) (2021)
Allele C
OR 0.02
p 2.0e-9
N 158,000
Major Consortium StudyLarge GWAS
European
acetylcarnitine measurement
Yin X et al. “Genome-wide association studies of metabolites in Finnish men identify disease-relevant loci.” Nature Communications 13(1):1644 (2022)
Allele T
OR 0.29
p 5.0e-29
N 6,136
Large GWAS
European
Tahir UA et al. “Whole Genome Association Study of the Plasma Metabolome Identifies Metabolites Linked to Cardiometabolic Disease in Black Individuals.” Nature Communications 13(1):4923 (2022)
Allele T
OR 0.23
p 4.0e-11
N 2,466
Large GWAS
multi-ancestry
(S)-3-hydroxybutyrylcarnitine measurement
Chen Y et al. “Genomic atlas of the plasma metabolome prioritizes metabolites implicated in human diseases.” Nature Genetics 55(1):44-53 (2023)
Allele T
OR 0.17
p 1.0e-21
N 8,249
Large GWAS
European
Yin X et al. “Genome-wide association studies of metabolites in Finnish men identify disease-relevant loci.” Nature Communications 13(1):1644 (2022)
Allele T
OR 0.20
p 6.0e-14
N 6,136
Large GWAS
European
drug use measurement, gout
Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele C
OR 0.12
p 5.0e-21
N 315,668
Major Consortium StudyLarge GWAS
European
oleoylcarnitine measurement
Surendran P et al. “Rare and common genetic determinants of metabolic individuality and their effects on human health.” Nature Medicine 28(11):2321-2332 (2022)
Allele T
OR 0.10
p 3.0e-18
N 14,296
Large GWAS
European
N-methylproline measurement
Surendran P et al. “Rare and common genetic determinants of metabolic individuality and their effects on human health.” Nature Medicine 28(11):2321-2332 (2022)
Allele T
OR 0.10
p 1.0e-17
N 14,296
Large GWAS
European
Yin X et al. “Genome-wide association studies of metabolites in Finnish men identify disease-relevant loci.” Nature Communications 13(1):1644 (2022)
Allele T
OR 0.17
p 4.0e-11
N 6,136
Large GWAS
European
deoxycarnitine measurement
Yin X et al. “Genome-wide association studies of metabolites in Finnish men identify disease-relevant loci.” Nature Communications 13(1):1644 (2022)
Allele T
OR 0.22
p 2.0e-17
N 6,136
Large GWAS
European
Feofanova EV et al. “Whole-Genome Sequencing Analysis of Human Metabolome in Multi-Ethnic Populations.” Nature Communications 14(1):3111 (2023)
Allele T
OR 0.14
p 7.0e-15
N 10,457
Large GWAS
multi-ancestry
Chen Y et al. “Genomic atlas of the plasma metabolome prioritizes metabolites implicated in human diseases.” Nature Genetics 55(1):44-53 (2023)
Allele T
OR 0.14
p 3.0e-17
N 8,271
Large GWAS
European
About SLC16A9
Enables carnitine transmembrane transporter activity and creatine transmembrane transporter activity. Involved in carnitine transmembrane transport; creatine transmembrane transport; and urate metabolic process. Located in plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]
View all SLC16A9 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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