DBI M71V - GET-Evidence

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

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(DBI Met71Val)

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

  • G @ chr2:120129841: 2.5% (264/10758) in EVS
  • G @ chr2:119846310: 2.3% (3/128) in GET-Evidence
  • Frequency shown in summary reports: 2.5% (264/10758)



hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
hom G @ chr2:120129841


huE80E3D - CGI sample GS00253-DNA_D01_200_37
het G @ chr2:120129841


GS20509 - var-GS20509-1100-36-ASM
het G @ chr2:119846311


Other external references

  • rs8192506
  • Score: 0.297 (possibly damaging)
    Web search results (25 hits -- see all)
  • DBI Gene - GeneCards | ACBP Protein | ACBP Antibody
    DBI Gene in genomic location: bands according to Ensembl, locations according to ... Abnova (DBI) OriGene Purified Recombinant Human Protein: DBI. 1 Gene ...
  • DBI [PharmGKB]
    rs8192506 at chr2:119846311 in C2orf76, DBI. Association between a non-synonymous coding ... DBI. PromoLign ID: ortho_989. HuGE ID: DBI. Comparative Toxicogenomics ...
  • Supplementary Table xls.1
    Case frequencies. Control frequencies. 2. SNP ID1. Gene. Protein. AA2. AB2. BB2. AA2. AB2. BB2. 3 ... rs8192506. DBI. NP_065438. 2342. 215. 4. 2482. 208. 5. 250. rs2229080. DCC ...
  • Acyl-CoA-binding protein - Homo sapiens (Human)
    M V: dbSNP rs8192506. VAR_048161. Natural variant. 86. 1. G R: dbSNP ... characterization of two diazepam binding inhibitor (DBI) transcripts in humans. ...
  • Supplementary Table xls.1
    Administrator B**a***=***£***h*J*\I08*X*@*ì*"*******1* É*ÿ**Arial1* É*ÿ**Arial1 ... 6 receptor rs8192297 rs8192341 rs8192506*DBI NM_020548 NP_065438 ...
  • Evaluation of Phenotypic Changes of Acyl-CoA Binding Protein ...
    The exonic SNP rs8192506 was found to be associated. with anxiety disorders with panic ... that this protein is identical to ACBP/DBI isolated from rat brain. ...
  • [M4] Sidney on top of the World
    [M4] Sidney on top of the World. Sarah Leipsic sarah@tam.net. Tue, 8 May 2001 16:10:35 ... Next message: [M4] Having fun at the Bay to Breakers party. Messages ...
  • DBI Gene - GeneCards | ACBP Protein | ACBP Antibody
    DBI Gene in genomic location: bands according to Ensembl, locations according to ... (DBI) Novus Biologicals Antibody for DBI. Assays for DBI: Browse ...
  • Mooney Lab - MutDB
    Mooney Lab Home Publications Research Contact Us. Gene ID: DBI ... MutDB MutPred In Silico Functional Profiling PhenoPred S-BLEST CRP Web Services ...
  • DBI Gene, DBI Transcript, DBI Protein, and DBI Antibody ...
    Homo sapiens. This gene encodes diazepam binding inhibitor, a protein that is regulated by hormones and is involved in lipid metabolism and the displacement of beta ...

Other in silico analyses

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 2

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Gene search

"GENE" or "GENE A123C":

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