THADA T1187A - 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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(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 -


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 @ 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)



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


Added in this revision:

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




Other external references

  • rs7578597
  • 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
  • [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).; Web Resource:
  • 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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