rs628031

This is a variant in the SLC22A1 gene that changes a methionine to an valine.

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GWAS Catalog Trait Associations (1)

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

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ClinVar annotation

Benign★☆☆☆
1 submitter
View on ClinVar →
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Research that mentions this SNP (2)

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ABCB1andABCC1variants associated with virological failure of first-line protease inhibitors antiretroviral regimens in Northeast Brazil patients
AssociationN=187Antonio V.C. Coelho et al.(2013)· The Journal of Clinical Pharmacology

This retrospective cohort study of 187 Brazilian HIV patients examined associations between seven SNPs in five pharmacokinetic genes and virological failure on first-line protease inhibitor-based antiretroviral therapy. Two variants were significantly associated with treatment failure: rs1045642 (ABCB1) and rs212091 (ABCC1), suggesting that genetic variation in drug transporter proteins influences treatment outcomes in this population.

Traits studied:HIV virological failure on protease inhibitor antiretroviral therapyResponse to first-line highly active antiretroviral therapy (HAART)
PubMedDOIMetascience Observatory
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Interindividual Variability in the Hepatic Expression of the Human Breast Cancer Resistance Protein (BCRP/ABCG2): Effect of Age, Sex, and Genotype
AssociationN=1,000Bhagwat Prasad et al.(2013)· Journal of Pharmaceutical Sciences

Case-control study of 1,000 Han Chinese individuals (450 epilepsy cases, 550 controls) examining associations between STX1B polymorphisms and epilepsy treatment response. The rs140820592 variant showed significant association with reduced epilepsy risk (OR=0.542, p=0.004) and drug-resistant epilepsy risk (OR=0.260, p=0.004), with eQTL analysis confirming rs140820592 regulates STX1B expression in brain tissues.

Traits studied:Drug-resistant epilepsyDrug-responsive epilepsyEpilepsyImatinib response in chronic myelogenous leukemiaPraziquantel responseTacrolimus metabolism
PubMedDOIMetascience Observatory

About SLC22A1

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. Two transcript variants encoding two different isoforms have been found for this gene, but only the longer variant encodes a functional transporter. [provided by RefSeq, Jul 2008]

View all SLC22A1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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