SCARB1 G2S - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

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(SCARB1 Gly2Ser)

You are viewing an old version of this page that was saved on November 29, 2012 at 2:44am by Genome Importing Robot.

Short summary

Higher responsiveness to fenofibrate.

Variant evidence
Computational -
Functional -
Case/Control -
Familial -
Clinical importance
Severity -
Treatability -
Penetrance -


Insufficiently evaluated pharmacogenetic

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern


Summary of published research, and additional commentary


Allele frequency

  • T @ chr12:125348263: 8.1% (816/10032) in EVS
  • Frequency shown in summary reports: 8.1% (816/10032)


Liu Y, Ordovas JM, Gao G, Province M, Straka RJ, Tsai MY, Lai CQ, Zhang K, Borecki I, Hixson JE, Allison DB, Arnett DK. The SCARB1 gene is associated with lipid response to dietary and pharmacological interventions. J Hum Genet. 2008;53(8):709-17. doi: 10.1007/s10038-008-0302-2. Epub 2008 Jun 10. PubMed PMID: 18542840.



Added in this revision:

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het T @ chr12:125348263





Other external references

  • rs4238001
  • [fenofibrate]
    This variant was significantly associated with postfenofibrate change for triglycerides. Subjects bearing minor allele A tend to have higher responsiveness to fenofibrate in lowering TG. A total of 1,327 subjects (639 men and 688 women) from 148 families were genotyped. Of these 1,327 subjects, 861 subjects (427 men and 434 women) went through the fenofibrate trial and had complete lipid phenotype and genotype data.
  • Score: 0.937 (probably damaging)

Other in silico analyses

  • NBLOSUM100 score = 2
  • GET-Evidence autoscore = 2

Edit history

Gene search

"GENE" or "GENE A123C":

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