rs79091853

This variant is located in the SLC19A1 gene.

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ClinVar annotation

Benign★★★☆
3 submitters2 publications

Cervical cancer; not provided; Uterine corpus endometrial carcinoma; Thymoma; Melanoma; Uveal melanoma; Colon adenocarcinoma; Colorectal cancer; Sarcoma; Clear cell carcinoma of kidney; Ovarian serous cystadenocarcinoma; Thyroid cancer, nonmedullary, 1; Hepatocellular carcinoma

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Research that mentions this SNP (1)

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Membrane‐Spanning Protein Genetic Polymorphisms Related to Methotrexate Therapeutic Outcomes in a Chinese Rheumatoid Arthritis Population
AssociationN=100Shuang Lv et al.(2019)· The Journal of Clinical Pharmacology

This pilot study investigated associations between genetic polymorphisms in transporter genes (SLC19A1, ABCC2, ABCB1, ABCC1, ABCC3, ABCG2) and clinical response to methotrexate (MTX) in 100 Chinese rheumatoid arthritis (RA) patients. Multiple SNPs showed significant associations with MTX response: SLC19A1 rs12659 and rs3788200 major alleles were associated with EULAR good/moderate response (RR=1.42-1.45, p=0.03-0.04); ABCC2 rs3740066 major allele was associated with DAS28-ESR low disease activity (RR=0.67, p=0.02). Haplotype analysis identified significant associations of SLC19A1 and ABCC2 haplotypes with clinical response outcomes.

Traits studied:Change in DAS28-ESRDAS28-ESR low disease activityEULAR good and moderate responseMethotrexate responseRheumatoid arthritis
PubMedDOIMetascience Observatory

About SLC19A1

The membrane protein encoded by this gene is a transporter of folate and is involved in the regulation of intracellular concentrations of folate. Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2011]

View all SLC19A1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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