ABCG8 D19H - 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.

Please help improve GET-Evidence by evaluating evidence for this variant!

Curation:
Currentness:

(See the latest version)

ABCG8 D19H

(ABCG8 Asp19His)


You are viewing an old version of this page that was saved on May 16, 2010 at 7:49pm by PharmGKB Importing Robot.

Short summary

 

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

Impact

Insufficiently evaluated pathogenic

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern

other

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)

Publications
 

Added in this revision:

Buch S, Schafmayer C, Völzke H, Becker C, Franke A, von Eller-Eberstein H, Kluck C, Bässmann I, Brosch M, Lammert F, Miquel JF, Nervi F, Wittig M, Rosskopf D, Timm B, Höll C, Seeger M, ElSharawy A, Lu T, Egberts J, Fändrich F, Fölsch UR, Krawczak M, Schreiber S, Nürnberg P, Tepel J, Hampe J. A genome-wide association scan identifies the hepatic cholesterol transporter ABCG8 as a susceptibility factor for human gallstone disease. Nat Genet. 2007 Aug;39(8):995-9. Epub 2007 Jul 15. PubMed PMID: 17632509.

 

Genomes
 

snp-27

 

Other external references
 

    GWAS
  • 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
    www.ncbi.nlm.nih.gov/pubmed/17632509
    PharmGKB
  • [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.
    www.ncbi.nlm.nih.gov/pubmed/17632509
  • [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).
    www.ncbi.nlm.nih.gov/pubmed/17632509; Web Resource:http://www.genome.gov/gwastudie
    PolyPhen-2
  • Score: 0 (benign)

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in