rs1249675

This variant is located in the SLC44A5 gene.

Research that mentions this SNP (1)

Identification of novel germline polymorphisms governing capecitabine sensitivity
AssociationN=503O'Donnell PH et al.(2012)· Cancer

A genome-wide association study of capecitabine sensitivity in 503 HapMap lymphoblastoid cell lines identified novel germline variants associated with capecitabine/5-FU susceptibility. Key findings include rs4702484 (P=5.2×10⁻⁸) in ADCY2 near MTRR, and rs11722476 (P=6.7×10⁻⁵), a missense variant in SMARCAD1 (Ser158Asn). Meta-analysis across six global populations identified four SNPs approaching genome-wide significance (P=1.9×10⁻⁷–8.8×10⁻⁷), with rs8101143 (P=1.9×10⁻⁷), rs576523 (P=2.3×10⁻⁷), and rs361433 also among top hits.

Traits studied:5-fluorouracil sensitivityCancer chemotherapy response and toxicityCapecitabine sensitivityCapecitabine-induced cytotoxicity

About SLC44A5

Enables choline transmembrane transporter activity. Involved in choline transport. Located in plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]

View all SLC44A5 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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