rs12356193

This is a intron variant variant in the SLC16A9 gene.

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GWAS Catalog Trait Associations (6)

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

carnitine measurement

Shin SY et al. “An atlas of genetic influences on human blood metabolites.” Nature Genetics 46(6):543-550 (2014)
Allele A
OR 0.03
p 4.0e-63
N 7,797
Large GWAS
European

propionylcarnitine measurement

Shin SY et al. “An atlas of genetic influences on human blood metabolites.” Nature Genetics 46(6):543-550 (2014)
Allele A
OR 0.03
p 2.0e-33
N 7,813
Large GWAS
European

X-11381 measurement

Shin SY et al. “An atlas of genetic influences on human blood metabolites.” Nature Genetics 46(6):543-550 (2014)
Allele A
OR 0.02
p 8.0e-20
N 7,753
Large GWAS
European

N,N-dimethylalanine 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 G
OR 0.14
p 2.0e-11
N 8,219
Large GWAS
European

gout

Major TJ et al. “A genome-wide association analysis reveals new pathogenic pathways in gout.” Nature Genetics 56(11):2392-2406 (2024)
Allele A
OR 1.09
p 8.0e-10
N 1,195,362
Large GWAS
European

uric acid measurement

Kolz M et al. “Meta-analysis of 28,141 individuals identifies common variants within five new loci that influence uric acid concentrations.” Plos Genetics 5(6):e1000504 (2009)
Allele A
OR 0.08
p 1.0e-8
N 28,141
Meta-analysisLarge GWAS
European
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Research that mentions this SNP (1)

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Genetic variability related to serum uric acid concentration and risk of Parkinson's disease
AssociationN=1,815Isabel González‐Aramburu et al.(2013)· Movement Disorders

This study analyzed 9 uric acid-regulating SNPs and 5 progranulin-regulating SNPs in 1,061 Parkinson's disease patients and 754 controls. A cumulative genetic risk score from 8 SNPs (SLC2A9 rs734553, ABCG2 rs2231142, SLC17A1 rs1183201, SLC22A12 rs505802, GCKR rs780094, PDZK1 rs12129861, LRRC16A/SCGN rs742132, SLC16A9 rs12356193) was significantly associated with increased PD risk (OR=1.55, p=0.012). The TMEM106b rs1020004 variant showed association with PD risk (p=0.003), and SORT1 rs646776 was associated with serum progranulin levels and PD-dementia risk.

Traits studied:Parkinson's diseaseParkinson's disease dementiaSerum progranulin levelsSerum uric acid levels
PubMedDOIMetascience Observatory

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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