ABCG8 D19H - GET-Evidence

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

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(ABCG8 Asp19His)

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)


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.


Stender S, Frikke-Schmidt R, Nordestgaard BG, Tybjaerg-Hansen A. Sterol transporter adenosine triphosphate-binding cassette transporter G8, gallstones, and biliary cancer in 62,000 individuals from the general population. Hepatology. 2011 Feb;53(2):640-8. doi: 10.1002/hep.24046. Epub 2010 Dec 28. PubMed PMID: 21274884.


von Schönfels W, Buch S, Wölk M, Aselmann H, Egberts JH, Schreiber S, Krawczak M, Becker T, Hampe J, Schafmayer C. Recurrence of gallstones after cholecystectomy is associated with ABCG5/8 genotype. J Gastroenterol. 2012 Aug 7. [Epub ahead of print] PubMed PMID: 22869156.


von Kampen O, Buch S, Nothnagel M, Azocar L, Molina H, Brosch M, Erhart W, von Schönfels W, Egberts J, Seeger M, Arlt A, Balschun T, Franke A, Lerch MM, Mayerle J, Kratzer W, Boehm BO, Huse K, Schniewind B, Tiemann K, Jiang ZY, Han TQ, Mittal B, Srivastava A, Fenger M, Jørgensen T, Schirin-Sokhan R, Tönjes A, Wittenburg H, Stumvoll M, Kalthoff H, Lammert F, Tepel J, Puschel K, Becker T, Schreiber S, Platzer M, Völzke H, Krawczak M, Miquel JF, Schafmayer C, Hampe J. Genetic and functional identification of the likely causative variant for cholesterol gallstone disease at the ABCG5/8 lithogenic locus. Hepatology. 2012 Aug 16. doi: 10.1002/hep.26009. [Epub ahead of print] PubMed PMID: 22898925.






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


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


GS19834 - var-GS19834-1100-36-ASM
hom C @ chr2:43919751


GS21767 - var-GS21767-1100-36-ASM
het C @ chr2:43919751


Other external references

  • rs11887534
  • 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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