IL13 Q144R - GET-Evidence

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

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IL13 Q144R

(IL13 Gln144Arg)

You are viewing an old version of this page that was saved on December 27, 2009 at 4:09pm by Genome Importing Robot.

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

  • G @ chr5:131995964: 81.1% (8727/10758) in EVS
  • G @ chr5:132023862: 72.7% (93/128) in GET-Evidence
  • Frequency shown in summary reports: 81.1% (8727/10758)



Added in this revision:

hu9385BA - CGI sample GS00253-DNA_E01_200_37
hom G @ chr5:131995964


huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het G @ chr5:131995964


huE80E3D - CGI sample GS00253-DNA_D01_200_37
hom G @ chr5:131995964




Other external references

  • rs20541
  • Psoriasis (rs20541-G)
    Nair 25-Jan-09 in Nat Genet
    OR or beta: 1.27 [NR]
    Risk allele frequency: 0.79
    p-value: 5.00E-15
    Initial sample: 1,359 cases, 1,400 controls
    Replication sample: 5,048 cases, 5,041 controls
  • [Psoriasis]
    GWAS results: Genome-wide scan reveals association of psoriasis with IL-23 and NF-kappaB pathways. (Initial Sample Size: 1,359 cases, 1,400 controls; Replication Sample Size: 5,048 cases, 5,041 controls); (Region: 5q31.1; Reported Gene(s): IL13; Risk Allele: rs20541-G); (p-value= 0.000000000000005).This variant is associated with Psoriasis.; Web Resource:

Other in silico analyses

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 2

Edit history

Gene search

"GENE" or "GENE A123C":

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