rs2292334

This is a synonymous variant in the SLC22A3 gene — it does not change the protein's amino acid sequence.

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GWAS Catalog Trait Associations (4)

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

monocyte count

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 G
OR 0.02
p 1.0e-14
N 429,585
Major Consortium StudyLarge GWAS
multi-ancestry
Chen MH et al. “Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations.” Cell 182(5):1198-1213.e14 (2020)
Allele G
OR 0.01
p 3.0e-12
N 521,594
Large GWAS
European
Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele G
OR 0.01
p 3.0e-9
N 408,112
Large GWAS
European

mean corpuscular hemoglobin concentration

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 G
OR 0.02
p 6.0e-14
N 407,342
Major Consortium StudyLarge GWAS
European

monocyte percentage of leukocytes

Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele A
OR 0.02
p 2.0e-11
N 408,112
Large GWAS
European

BMI-adjusted hip circumference

Christakoudi S et al. “GWAS of allometric body-shape indices in UK Biobank identifies loci suggesting associations with morphogenesis, organogenesis, adrenal cell renewal and cancer.” Scientific Reports 11(1):10688 (2021)
Allele A
OR 0.02
p 2.0e-10
N 219,872
Major Consortium StudyLarge GWAS
European
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ClinVar annotation

Benign★☆☆☆
2 submitters

Pancreatic adenocarcinoma; not provided

View on ClinVar →
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Research that mentions this SNP (1)

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Genetic variants in SLC22A3 contribute to the susceptibility to colorectal cancer
AssociationN=670Anjing Ren et al.(2019)· International Journal of Cancer

This case-control study investigated the association between three SLC22A3 SNPs (rs555754, rs3123636, rs3088442) and type 2 diabetes mellitus susceptibility in 450 Chinese T2DM patients and 220 healthy controls. The rs555754 A allele increased T2DM risk (OR=1.409, p=0.023), while rs3123636 C allele was protective (OR=0.645, p=0.018). The AC haplotype of rs3088442-rs3123636 also showed protective association (OR=0.713, p=0.011).

Traits studied:Type 2 Diabetes Mellitus
PubMedDOIMetascience Observatory

About SLC22A3

Polyspecific organic cation transporters in the liver, kidney, intestine, and other organs are critical for elimination of many endogenous small organic cations as well as a wide array of drugs and environmental toxins. This gene is one of three similar cation transporter genes located in a cluster on chromosome 6. The encoded protein contains twelve putative transmembrane domains and is a plasma integral membrane protein. [provided by RefSeq, Jul 2008]

View all SLC22A3 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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