rs60571683
This variant is located in the SLCO1B3 gene.
▶GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
Glycochenodeoxycholate sulfate measurement
X-21441 measurement
X-14658 measurement
▶ClinVar annotation
Rotor syndrome; SLCO1B3-related disorder; not provided
View on ClinVar →▶Research that mentions this SNP (2)
▶Genetic variants in N6-methyladenosine are associated with bladder cancer risk in the Chinese populationAssociationN=387,318Hanting Liu et al.(2021)· Archives of Toxicology
This study identified 402 m6A-associated SNPs in colorectal cancer using genome-wide association study data integrated with expression quantitative trait loci analysis. Three key SNPs were validated: rs178184 in NOVA1 (p=3.41×10⁻¹¹, downregulated), rs35782901 in HTR4 (p=5.56×10⁻⁷, downregulated), and rs60571683 in SLCO1B3 (overexpressed, p=1.09×10⁻⁶ to 7.63×10⁻⁶), suggesting these m6A-SNPs may influence colorectal cancer pathogenesis through altered gene expression.
▶Genetic variants in m6A regulators are associated with gastric cancer riskAssociationN=387,318Xiaowei Wang et al.(2021)· Archives of Toxicology
This integrative genomic study identified 402 m6A-associated SNPs related to colorectal cancer by combining GWAS data with expression quantitative trait loci (eQTL) analysis. Three SNPs showed strong associations with altered gene expression: rs178184 in NOVA1 (p=3.41×10⁻¹¹, downregulated), rs35782901 in HTR4 (p=5.56×10⁻⁷, downregulated), and rs60571683 in SLCO1B3 (p=7.63×10⁻⁶, upregulated in CRC tissues), suggesting these m6A-SNPs may influence colorectal cancer pathogenesis through altered mRNA modification.
About SLCO1B3
This gene encodes a liver-specific member of the organic anion transporter family. The encoded protein is a transmembrane receptor that mediates the sodium-independent uptake of endogenous and xenobiotic compounds and plays a critical role in bile acid and bilirubin transport. Mutations in this gene are a cause of Rotor type hyperbilirubinemia. Alternative splicing of this gene and the use of alternative promoters results in transcript variants encoding different isoforms that differ in their tissue specificity. [provided by RefSeq, Mar 2017]
View all SLCO1B3 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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