ADRB2 E27Q - 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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(ADRB2 Glu27Gln)

You are viewing an old version of this page that was saved on June 23, 2011 at 12:07am by Genome Importing Robot.

Short summary


Variant evidence
Computational 1

PolyPhen2: Benign, score 0.012
GVGD: Class C25
Multi-alignment with chimpanzee, orangutan, Rhesus monkey, rabbit, gorilla, panda, horse and dog.

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

  • C @ chr5:148206473: 66.1% (7115/10758) in EVS
  • C @ chr5:148186665: 65.6% (80/122) in GET-Evidence
  • Frequency shown in summary reports: 66.1% (7115/10758)



hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het C @ chr5:148206473


hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het C @ chr5:148206473




hu604D39 - CGI sample GS00253-DNA_B02_200_37
hom C @ chr5:148206473



hu9385BA - CGI sample GS00253-DNA_E01_200_37
het C @ chr5:148206473


huAE6220 - CGI sample GS00253-DNA_H01_200_37
hom C @ chr5:148206473


huE80E3D - CGI sample GS00253-DNA_D01_200_37
hom C @ chr5:148206473


GS06994 - var-GS06994-1100-36-ASM
hom C @ chr5:148186666


GS10851 - var-GS10851-1100-36-ASM
het C @ chr5:148186666


GS12004 - var-GS12004-1100-36-ASM
hom C @ chr5:148186666


GS18501 - var-GS18501-1100-36-ASM
hom C @ chr5:148186666


GS18502 - var-GS18502-1100-36-ASM
hom C @ chr5:148186666


GS18504 - var-GS18504-1100-36-ASM
het C @ chr5:148186666


GS18505 - var-GS18505-1100-36-ASM
het C @ chr5:148186666


GS18508 - var-GS18508-1100-36-ASM
hom C @ chr5:148186666


GS18517 - var-GS18517-1100-36-ASM
hom C @ chr5:148186666


GS18526 - var-GS18526-1100-36-ASM
hom C @ chr5:148186666


GS18537 - var-GS18537-1100-36-ASM
hom C @ chr5:148186666


GS18555 - var-GS18555-1100-36-ASM
het C @ chr5:148186666


GS18558 - var-GS18558-1100-36-ASM
hom C @ chr5:148186666


GS18940 - var-GS18940-1100-36-ASM
hom C @ chr5:148186666


GS18947 - var-GS18947-1100-36-ASM
hom C @ chr5:148186666


GS18956 - var-GS18956-1100-36-ASM
hom C @ chr5:148186666


GS19017 - var-GS19017-1100-36-ASM
het C @ chr5:148186666


GS19025 - var-GS19025-1100-36-ASM
hom C @ chr5:148186666


GS19026 - var-GS19026-1100-36-ASM
hom C @ chr5:148186666


GS19129 - var-GS19129-1100-36-ASM
het C @ chr5:148186666


GS19238 - var-GS19238-1100-36-ASM
het C @ chr5:148186666


GS19239 - var-GS19239-1100-36-ASM
hom C @ chr5:148186666


GS19240 - var-GS19240-1100-36-ASM
het C @ chr5:148186666


GS19649 - var-GS19649-1100-36-ASM
hom C @ chr5:148186666


GS19669 - var-GS19669-1100-36-ASM
het C @ chr5:148186666


GS19700 - var-GS19700-1100-36-ASM
hom C @ chr5:148186666


GS19703 - var-GS19703-1100-36-ASM
hom C @ chr5:148186666


GS19704 - var-GS19704-1100-36-ASM
hom C @ chr5:148186666


GS19735 - var-GS19735-1100-36-ASM
hom C @ chr5:148186666


GS19834 - var-GS19834-1100-36-ASM
het C @ chr5:148186666


GS20502 - var-GS20502-1100-36-ASM
hom C @ chr5:148186666


GS20509 - var-GS20509-1100-36-ASM
het C @ chr5:148186666


GS21767 - var-GS21767-1100-36-ASM
hom C @ chr5:148186666




Deleted in this revision:















Other external references

  • rs1042714
  • [Asthma; Heart Diseases]
    This variant has been studied in terms of asthma and its drug response and in terms of heart disease and vascular phenotypes and their drug responses.
  • [Heart Failure]
    Heart failure patients homozygous for Gln27 were less likely to have improved left ventricular ejection fraction after carvedilol treatment compared to Glu27 carriers. However, in another study of heart failure patients, Gln27Glu polymorphism was not associated with the improvement of left ventricular ejection fraction or decrease in heart rate due to a beta blocker in stable congestive heart failure.; PubMed ID:15861037
  • [Asthma]
    Three recent meta-analyses have shown that the Gln27Glu and Gly16Arg polymorphisms are not associated with asthma.; PubMed ID:15867853; PubMed ID:15987731
  • Score: 0.001 (benign)

Other in silico analyses

  • NBLOSUM100 score = –2
  • GET-Evidence autoscore = 3

Edit history

Gene search

"GENE" or "GENE A123C":

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