SCARB1 G2S - GET-Evidence

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

To be considered sufficiently evaluated a variant must have both "variant evidence" and "clinical importance" scores filled in.

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(SCARB1 Gly2Ser)

You are viewing an old version of this page that was saved on December 27, 2009 at 4:03pm by Genome Importing Robot.

Added in this revision:

Short summary


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


Insufficiently evaluated not reviewed

(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)



Other external references

  • [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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