rs56339318

This is a regulatory region variant variant in the LIN28B gene.

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GWAS Catalog Trait Associations (1)

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

gallstones

Fairfield CJ et al. “Genome-wide analysis identifies gallstone-susceptibility loci including genes regulating gastrointestinal motility.” Hepatology (baltimore, Md.) 75(5):1081-1094 (2022)

Allele C

OR 0.92

p 2.0e-11

N 550,437

Large GWAS

European

About LIN28B

The protein encoded by this gene belongs to the lin-28 family, which is characterized by the presence of a cold-shock domain and a pair of CCHC zinc finger domains. This gene is highly expressed in testis, fetal liver, placenta, and in primary human tumors and cancer cell lines. It is negatively regulated by microRNAs that target sites in the 3' UTR, and overexpression of this gene in primary tumors is linked to the repression of let-7 family of microRNAs and derepression of let-7 targets, which facilitates cellular transformation. [provided by RefSeq, Jun 2012]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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