rs555754

This variant is located in the SLC22A3 gene.

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GWAS Catalog Trait Associations (6)

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

sex hormone-binding globulin measurement

Ruth KS et al. “Using human genetics to understand the disease impacts of testosterone in men and women.” Nature Medicine 26(2):252-258 (2020)
Allele A
OR 0.02
p 2.0e-59
N 188,908
Large GWAS
European
Haas CB et al. “Cross-ancestry Genome-wide Association Studies of Sex Hormone Concentrations in Pre- and Postmenopausal Women.” Endocrinology 163(4) (2022)
Allele A
OR 0.04
p 5.0e-29
N 196,901
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 A
OR 1.16
p 8.0e-13
N 104,632
Major Consortium StudyLarge GWAS
European

BMI-adjusted waist 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-15
N 219,872
Major Consortium StudyLarge GWAS
European

pulse pressure measurement

Evangelou E et al. “Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits.” Nature Genetics 50(10):1412-1425 (2018)
Allele G
OR 0.14
p 1.0e-11
N 757,601
Large GWAS
European
Keaton JM et al. “Genome-wide analysis in over 1 million individuals of European ancestry yields improved polygenic risk scores for blood pressure traits.” Nature Genetics 56(5):778-791 (2024)
Allele G
OR 0.11
p 7.0e-11
N 1,028,980
Large GWAS
multi-ancestry

glycine measurement

Abar L et al. “Unravelling genetic architecture of circulatory amino acid levels, and their effect on risk of complex disorders.” Nar Genomics and Bioinformatics 6(2):lqae046 (2024)
Allele G
OR 0.02
p 1.0e-10
N 117,944
Large GWAS
European
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ClinVar annotation

Benign★☆☆☆
1 submitter
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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