rs77271279

This is a splice donor variant variant in the SLCO1B1 gene.

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GWAS Catalog Trait Associations (3)

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

hexadecanedioate measurement

Feofanova EV et al. “Whole-Genome Sequencing Analysis of Human Metabolome in Multi-Ethnic Populations.” Nature Communications 14(1):3111 (2023)
Allele T
OR 0.62
p 3.0e-12
N 9,331
Large GWAS
multi-ancestry

glycocholenate sulfate measurement

Feofanova EV et al. “Whole-Genome Sequencing Analysis of Human Metabolome in Multi-Ethnic Populations.” Nature Communications 14(1):3111 (2023)
Allele T
OR 0.62
p 5.0e-12
N 9,016
Large GWAS
multi-ancestry

metabolite measurement

Tahir UA et al. “Whole Genome Association Study of the Plasma Metabolome Identifies Metabolites Linked to Cardiometabolic Disease in Black Individuals.” Nature Communications 13(1):4923 (2022)
Allele T
OR 0.60
p 9.0e-12
N 2,466
Large GWAS
multi-ancestry
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ClinVar annotation

Conflicting Classifications
5 submitters1 publication

Rotor syndrome; SLCO1B1-related disorder; Hepatocellular carcinoma

View on ClinVar →

About SLCO1B1

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 numerous endogenous compounds including bilirubin, 17-beta-glucuronosyl estradiol and leukotriene C4. This protein is also involved in the removal of drug compounds such as statins, bromosulfophthalein and rifampin from the blood into the hepatocytes. Polymorphisms in the gene encoding this protein are associated with impaired transporter function. [provided by RefSeq, Mar 2009]

View all SLCO1B1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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