THADA T1187A - 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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THADA T1187A

(THADA Thr1187Ala)


You are viewing an old version of this page that was saved on March 29, 2011 at 8:55pm by Genome Importing Robot.

Short summary

 

Variant evidence
Computational -
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

  • 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
 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het C @ chr2:43732823

 

GS07357 - var-GS07357-1100-36-ASM
het C @ chr2:43586327

 

GS12004 - var-GS12004-1100-36-ASM
het C @ chr2:43586327

 

GS18502 - var-GS18502-1100-36-ASM
het C @ chr2:43586327

 

GS18504 - var-GS18504-1100-36-ASM
het C @ chr2:43586327

 

GS18505 - var-GS18505-1100-36-ASM
het C @ chr2:43586327

 

GS18508 - var-GS18508-1100-36-ASM
het C @ chr2:43586327

 

GS19017 - var-GS19017-1100-36-ASM
het C @ chr2:43586327

 

Added in this revision:

GS19020 - var-GS19020-1100-36-ASM
hom C @ chr2:43586327

 

NA19240

 

Other external references
 

    dbSNP
  • rs7578597
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    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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