IL13 Q144R - GET-Evidence

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

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Curation:
Currentness:

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IL13 Q144R

(IL13 Gln144Arg)


You are viewing an old version of this page that was saved on June 23, 2011 at 12:09am by Genome Importing Robot.

Short summary

 

Variant evidence
Computational 3

PolyPhen2: Benign, score 0.000
SIFT: Tolerated 1.00
GVGD: Class C0

Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated pharmacogenetic

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

Inheritance pattern

unknown

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)

Publications
 

Genomes
 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het G @ chr5:131995964

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
hom G @ chr5:131995964

 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
hom G @ chr5:131995964

 

 

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
hom G @ chr5:131995964

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
hom G @ chr5:131995964

 

 

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

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
hom G @ chr5:131995964

 

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

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
hom G @ chr5:131995964

 

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

 

GS06985 - var-GS06985-1100-36-ASM
het G @ chr5:132023863

 

GS06994 - var-GS06994-1100-36-ASM
het G @ chr5:132023863

 

GS07357 - var-GS07357-1100-36-ASM
hom G @ chr5:132023863

 

GS10851 - var-GS10851-1100-36-ASM
het G @ chr5:132023863

 

GS12004 - var-GS12004-1100-36-ASM
het G @ chr5:132023863

 

GS18501 - var-GS18501-1100-36-ASM
het G @ chr5:132023863

 

GS18502 - var-GS18502-1100-36-ASM
hom G @ chr5:132023863

 

GS18504 - var-GS18504-1100-36-ASM
hom G @ chr5:132023863

 

GS18505 - var-GS18505-1100-36-ASM
hom G @ chr5:132023863

 

GS18517 - var-GS18517-1100-36-ASM
het G @ chr5:132023863

 

GS18526 - var-GS18526-1100-36-ASM
hom G @ chr5:132023863

 

GS18537 - var-GS18537-1100-36-ASM
het G @ chr5:132023863

 

GS18555 - var-GS18555-1100-36-ASM
hom G @ chr5:132023863

 

GS18558 - var-GS18558-1100-36-ASM
het G @ chr5:132023863

 

GS18940 - var-GS18940-1100-36-ASM
het G @ chr5:132023863

 

GS18947 - var-GS18947-1100-36-ASM
het G @ chr5:132023863

 

GS18956 - var-GS18956-1100-36-ASM
het G @ chr5:132023863

 

GS19017 - var-GS19017-1100-36-ASM
het G @ chr5:132023863

 

GS19020 - var-GS19020-1100-36-ASM
het G @ chr5:132023863

 

GS19025 - var-GS19025-1100-36-ASM
hom G @ chr5:132023863

 

GS19026 - var-GS19026-1100-36-ASM
hom G @ chr5:132023863

 

GS19129 - var-GS19129-1100-36-ASM
hom G @ chr5:132023863

 

GS19238 - var-GS19238-1100-36-ASM
hom G @ chr5:132023863

 

GS19240 - var-GS19240-1100-36-ASM
het G @ chr5:132023863

 

GS19648 - var-GS19648-1100-36-ASM
het G @ chr5:132023863

 

GS19649 - var-GS19649-1100-36-ASM
het G @ chr5:132023863

 

GS19669 - var-GS19669-1100-36-ASM
hom G @ chr5:132023863

 

GS19700 - var-GS19700-1100-36-ASM
het G @ chr5:132023863

 

GS19701 - var-GS19701-1100-36-ASM
het G @ chr5:132023863

 

GS19703 - var-GS19703-1100-36-ASM
hom G @ chr5:132023863

 

GS19704 - var-GS19704-1100-36-ASM
hom G @ chr5:132023863

 

GS19834 - var-GS19834-1100-36-ASM
hom G @ chr5:132023863

 

GS20502 - var-GS20502-1100-36-ASM
hom G @ chr5:132023863

 

GS20509 - var-GS20509-1100-36-ASM
hom G @ chr5:132023863

 

GS21767 - var-GS21767-1100-36-ASM
het G @ chr5:132023863

 

NA18507

 

Deleted in this revision:

NA18507

 

NA18517

 

NA18555

 

NA18956

 

NA19129

 

NA19240

 

Other external references
 

    dbSNP
  • rs20541
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    GWAS
  • 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
    www.ncbi.nlm.nih.gov/pubmed/19169254
    PharmGKB
  • [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.
    www.ncbi.nlm.nih.gov/pubmed/19169254; Web Resource:http://www.genome.gov/gwastudie

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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