ABCC2 V1188E - GET-Evidence

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

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ABCC2 V1188E

(ABCC2 Val1188Glu)

Short summary


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


Insufficiently evaluated pharmacogenetic

(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

  • A @ chr10:101595996: 6.2% (667/10758) in EVS
  • A @ chr10:101585985: 8.6% (11/128) in GET-Evidence
  • Frequency shown in summary reports: 6.2% (667/10758)


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PubMed PMID: 16330681



hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
het A @ chr10:101595996


hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het A @ chr10:101595996


hu0D879F - CGI sample GS00253-DNA_G01_200_37
het A @ chr10:101595996



hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
het A @ chr10:101595996



hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het A @ chr10:101595996


huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het A @ chr10:101595996


GS06994 - var-GS06994-1100-36-ASM
het A @ chr10:101585986


GS10851 - var-GS10851-1100-36-ASM
het A @ chr10:101585986


GS18508 - var-GS18508-1100-36-ASM
het A @ chr10:101585986


GS18517 - var-GS18517-1100-36-ASM
het A @ chr10:101585986


GS19648 - var-GS19648-1100-36-ASM
het A @ chr10:101585986


Other external references

  • rs17222723
  • [Arrhythmias, Cardiac; Cardiomyopathies; Drug Toxicity; Lymphoma, Non-Hodgkin]
    Risk or phenotype-associated allele: A. Phenotype: This SNP was part of a haplotype associated with acute cardiotoxicity in response to doxorubicin. Study size: 1697. Study population/ethnicity: Participants of the German non-Hodgkin lymphoma study. Significance metric(s): OR = 2.3; 95% CI, 1.0 to 5.4. Type of association: PD; ADR; TOX.
  • Score: 0 (benign)
    Web search results (20 hits -- see all)
  • Increased susceptibility for intrahepatic cholestasis of ...
    Furthermore, two non-synonymous ABCC2. polymorphisms (V1188E and C1515Y) showed signifi ... ABCB11 and ABCC2 polymorphisms in a prospectively. recruited group of patients with ICP ...
  • Increased susceptibility for intrahepatic cholestasis of ...
    METHODS: ABCB11 and ABCC2 genotyping data were available from four CIC patients ... induced cholestasis, whereas no such association was found for ABCC2. ...
  • Pharma DMET - SNPedia
    ... ABCC2 ABCC2_53395T>A(V1188E) ABCC2_53395T>A(V1188E) noncore snp rs17222723 ABCC2 ... ABCC2 ABCC2_62902C>T(L1370L) ABCC2_62902C>T(L1370L) noncore snp rs7899457 ABCC2 ...
  • World J Gastroenterol
    METHODS: ABCB11 and ABCC2 genotyping data were available from four CIC patients ... induced cholestasis, whereas no such association was found for ABCC2. ...
  • Scientific Commons: Roland Zimmermann
    AIM: To study the association of three common ABCB11 and ABCC2 polymorphisms (ABCB11: 1331T>C V444A; ABCC2: 3563T>A V1188E and 4544G>A C1515Y) ...
  • AceView: Gene:ABCC2, a comprehensive annotation of human ...
    AceView offers a comprehensive annotation of human, mouse and nematode genes reconstructed by co-alignment and clustering of all publicly available mRNAs and ESTs on ...
  • Table S1
    ABCC2. rs17222723. c.3563T>A. p.V1188E. GOF. Allele A associated with not ... ABCC2. rs8187710. c.4544G>A. p.C1515Y. ROF. Allele A associated with TDF induced renal ...
  • (TXT 905 KB)
    ... 0 0 Homo sapiens C__27471650_30 ABCC2 DJS|MRP2|cMRP|ABC30|CMOAT ... 0 Homo sapiens C__25591743_30 ABCC2 DJS|MRP2|cMRP|ABC30|CMOAT|KIAA1010 A/T V1188E MIM:601107|PharmGKB:PA116 ...

Other in silico analyses

  • NBLOSUM100 score = 5
  • GET-Evidence autoscore = 3

Edit history

Gene search

"GENE" or "GENE A123C":

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