THADA T1187A - GET-Evidence

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Curation:
Currentness:

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THADA T1187A

(THADA Thr1187Ala)


You are viewing an old version of this page that was saved on May 8, 2010 at 4:43pm by Genome Importing Robot.

Allele frequency

  • C @ chr2:43732823: 15.6% (1501/9604) in EVS
  • C @ chr2:43586326: 16.4% (21/128) in GET-Evidence
  • Frequency shown in summary reports: 15.6% (1501/9604)

Publications
 

Genomes
 

Added in this revision:

NA19240

 

Other external references
 

    GWAS
  • Type 2 diabetes (rs7578597-T)
    Zeggini 30-Mar-08 in Nat Genet
    OR or beta: 1.15 [1.10-1.20]
    Risk allele frequency: 0.90
    p-value: 1.00E-09
    Initial sample: 4,549 cases, 5,579 controls
    Replication sample: 24,194 cases, 55,598 controls
    www.ncbi.nlm.nih.gov/pubmed/18372903
    PharmGKB
  • [Diabetes Mellitus; Diabetes Mellitus, Type 2]
    GWAS Results: Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes (Initial Sample Size: 4,549 cases, 5,579 controls; Replication Sample Size: 24,194 cases, 55,598 controls; Risk Allele: rs7578597-T).
    www.ncbi.nlm.nih.gov/pubmed/18372903; Web Resource:http://www.genome.gov/gwastudie
    PolyPhen-2
  • Score: 0.384 (possibly damaging)

Other in silico analyses
 

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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