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 November 29, 2012 at 3:04am by Genome Importing Robot.

Short summary


Variant evidence
Computational -
Functional -
Case/Control -
Familial -
Clinical importance
Severity -
Treatability -
Penetrance -


Insufficiently evaluated pathogenic

(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)


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PubMed PMID: 18204447





hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het A @ chr4:102751076






hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
hom A @ chr4:102751076


huAE6220 - CGI sample GS00253-DNA_H01_200_37
hom A @ chr4:102751076


huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
het A @ chr4:102751076


huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het A @ chr4:102751076


Added in this revision:

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
hom A @ chr4:102751076


huE80E3D - CGI sample GS00253-DNA_D01_200_37
het A @ chr4:102751076


GS12004 - var-GS12004-1100-36-ASM
hom A @ chr4:102970099


GS18501 - var-GS18501-1100-36-ASM
het A @ chr4:102970099


GS18502 - var-GS18502-1100-36-ASM
hom A @ chr4:102970099


GS18505 - var-GS18505-1100-36-ASM
hom A @ chr4:102970099


GS18526 - var-GS18526-1100-36-ASM
het A @ chr4:102970099


GS18558 - var-GS18558-1100-36-ASM
het A @ chr4:102970099


GS18940 - var-GS18940-1100-36-ASM
het A @ chr4:102970099


GS19020 - var-GS19020-1100-36-ASM
het A @ chr4:102970099


GS19026 - var-GS19026-1100-36-ASM
het A @ chr4:102970099


GS19129 - var-GS19129-1100-36-ASM
het A @ chr4:102970099


GS19238 - var-GS19238-1100-36-ASM
het A @ chr4:102970099


GS19239 - var-GS19239-1100-36-ASM
het A @ chr4:102970099


GS19240 - var-GS19240-1100-36-ASM
het A @ chr4:102970099


GS19648 - var-GS19648-1100-36-ASM
het A @ chr4:102970099


GS19834 - var-GS19834-1100-36-ASM
het A @ chr4:102970099


GS20502 - var-GS20502-1100-36-ASM
het A @ chr4:102970099


GS20509 - var-GS20509-1100-36-ASM
het A @ chr4:102970099


GS21767 - var-GS21767-1100-36-ASM
hom A @ chr4:102970099


Other external references

  • rs10516487
  • 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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