ABCG8 D19H - GET-Evidence

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

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Curation:
Currentness:

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ABCG8 D19H

(ABCG8 Asp19His)


You are viewing an old version of this page that was saved on March 29, 2011 at 8:55pm by Genome 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
 

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
 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het C @ chr2:44066247

 

GS12004 - var-GS12004-1100-36-ASM
het C @ chr2:43919751

 

GS18502 - var-GS18502-1100-36-ASM
het C @ chr2:43919751

 

GS19025 - var-GS19025-1100-36-ASM
het C @ chr2:43919751

 

GS19648 - var-GS19648-1100-36-ASM
het C @ chr2:43919751

 

GS19649 - var-GS19649-1100-36-ASM
het C @ chr2:43919751

 

GS19669 - var-GS19669-1100-36-ASM
het C @ chr2:43919751

 

Added in this revision:

GS19703 - var-GS19703-1100-36-ASM
het C @ chr2:43919751

 

snp-27

 

Other external references
 

    dbSNP
  • rs11887534
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    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":

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