BANK1 R61H - GET-Evidence

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

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(BANK1 Arg61His)

You are viewing an old version of this page that was saved on December 27, 2009 at 3:53pm by Genome Importing Robot.

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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

  • A @ chr4:102751076: 28.3% (3049/10758) in EVS
  • A @ chr4:102970098: 27.3% (35/128) in GET-Evidence
  • Frequency shown in summary reports: 28.3% (3049/10758)



Other external references

  • Systemic lupus erythematosus (rs10516487-G)
    Kozyrev 20-Jan-08 in Nat Genet
    OR or beta: 1.38 [1.25-1.53]
    Risk allele frequency: 0.77
    p-value: 4.00E-10
    Initial sample: 279 cases, 515 controls
    Replication sample: 1,757 cases, 1,540 controls
  • [Lupus Erythematosus, Systemic]
    In a genome-wide scan an association between systemic lupus erythematosus and this nonsynonymous SNP in the BANK1 gene was identified.
  • [Lupus erythematosus; Lupus Erythematosus, Systemic]
    GWAS Results: Functional variants in the B-cell gene BANK1 are associated with systemic lupus erythematosus (Initial Sample Size: 279 cases, 515 controls; Replication Sample Size: 1,757 cases, 1,540 controls; Risk Allele: rs10516487-G).; Web Resource:
  • Score: 0 (benign)

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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