ABCG8 D19H - GET-Evidence

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

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(ABCG8 Asp19His)

You are viewing an old version of this page that was saved on February 27, 2010 at 9:24pm 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

  • C @ chr2:44066247: 5.8% (531/9216) in EVS
  • C @ chr2:43919750: 11.7% (15/128) in GET-Evidence
  • Frequency shown in summary reports: 5.8% (531/9216)



Added in this revision:



Other external references

  • Gallstones (rs11887534-C)
    Buch 15-Jul-07 in Nat Genet
    OR or beta: 2.2 [1.80-2.60]
    Risk allele frequency: 0.10
    p-value: 1.00E-14
    Initial sample: 280 cases, 360 controls
    Replication sample: 2,000 cases, 1,202 controls
  • [Cholelithiasis]
    In a GWAS of cases and controls from an unspecificied population, rs11887534 was found to be associated with gallstones. This finding was replicated in German and Chilean populations.
  • [Cholelithiasis]
    GWAS Results: A genome-wide association scan identifies the hepatic cholesterol transporter ABCG8 as a susceptibility factor for human gallstone disease (Initial Sample Size: 280 cases, 360 controls; Replication Sample Size: 2,000 cases, 1,202 controls; Risk Allele: rs11887534-C).; Web Resource:
  • Score: 0 (benign)

Other in silico analyses

  • NBLOSUM100 score = 3
  • GET-Evidence autoscore = 3

Edit history

Gene search

"GENE" or "GENE A123C":

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