rs12287931 - 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.

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Curation:
Currentness:

rs12287931


Short summary

 

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

Impact

Insufficiently evaluated pharmacogenetic

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

Inheritance pattern

unknown

Summary of published research, and additional commentary

 

Allele frequency

  • A @ chr11:99381431: 38.7% (48/124) in GET-Evidence
  • Frequency shown in summary reports: 38.7% (48/124)

Publications
 

Huang RS, Duan S, Bleibel WK, Kistner EO, Zhang W, Clark TA, Chen TX, Schweitzer AC, Blume JE, Cox NJ, Dolan ME. A genome-wide approach to identify genetic variants that contribute to etoposide-induced cytotoxicity. Proc Natl Acad Sci U S A. 2007 Jun 5;104(23):9758-63. Epub 2007 May 30. PubMed PMID: 17537913; PubMed Central PMCID: PMC1887589.

 

Genomes
 

hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
het A @ chr11:99876222

 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het A @ chr11:99876222

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het A @ chr11:99876222

 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het A @ chr11:99876222

 

 

hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491
het A @ chr11:99876222

 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
het A @ chr11:99876222

 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
het A @ chr11:99876222

 

hu34D5B9 - CGI sample GS01173-DNA_C07 from PGP sample 92161424
het A @ chr11:99876222

 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
het A @ chr11:99876222

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het A @ chr11:99876222

 

hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
hom A @ chr11:99876222

 

hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
het A @ chr11:99876222

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
hom A @ chr11:99876222

 

hu728FFF - hu728FFF build 36 substitution variants
het A @ chr11:99381432

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het A @ chr11:99876222

 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
het A @ chr11:99876222

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het A @ chr11:99876222

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
hom A @ chr11:99876222

 

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het A @ chr11:99876222

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
hom A @ chr11:99876222

 

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
het A @ chr11:99876222

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
het A @ chr11:99876222

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het A @ chr11:99876222

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
het A @ chr11:99876222

 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
het A @ chr11:99876222

 

GS06994 - var-GS06994-1100-36-ASM
het A @ chr11:99381432

 

GS12004 - var-GS12004-1100-36-ASM
het A @ chr11:99381432

 

GS18501 - var-GS18501-1100-36-ASM
het A @ chr11:99381432

 

GS18502 - var-GS18502-1100-36-ASM
het A @ chr11:99381432

 

GS18504 - var-GS18504-1100-36-ASM
het A @ chr11:99381432

 

GS18505 - var-GS18505-1100-36-ASM
hom A @ chr11:99381432

 

GS18508 - var-GS18508-1100-36-ASM
het A @ chr11:99381432

 

GS18537 - var-GS18537-1100-36-ASM
het A @ chr11:99381432

 

GS18555 - var-GS18555-1100-36-ASM
het A @ chr11:99381432

 

GS18558 - var-GS18558-1100-36-ASM
het A @ chr11:99381432

 

GS19017 - var-GS19017-1100-36-ASM
hom A @ chr11:99381432

 

GS19020 - var-GS19020-1100-36-ASM
hom A @ chr11:99381432

 

GS19025 - var-GS19025-1100-36-ASM
hom A @ chr11:99381432

 

GS19026 - var-GS19026-1100-36-ASM
hom A @ chr11:99381432

 

GS19129 - var-GS19129-1100-36-ASM
het A @ chr11:99381432

 

GS19238 - var-GS19238-1100-36-ASM
het A @ chr11:99381432

 

GS19239 - var-GS19239-1100-36-ASM
het A @ chr11:99381432

 

GS19240 - var-GS19240-1100-36-ASM
het A @ chr11:99381432

 

GS19648 - var-GS19648-1100-36-ASM
het A @ chr11:99381432

 

GS19649 - var-GS19649-1100-36-ASM
het A @ chr11:99381432

 

GS19700 - var-GS19700-1100-36-ASM
het A @ chr11:99381432

 

GS19701 - var-GS19701-1100-36-ASM
het A @ chr11:99381432

 

GS19834 - var-GS19834-1100-36-ASM
hom A @ chr11:99381432

 

GS20509 - var-GS20509-1100-36-ASM
het A @ chr11:99381432

 

GS21767 - var-GS21767-1100-36-ASM
hom A @ chr11:99381432

 

Other external references
 

    dbSNP
  • rs12287931
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PharmGKB
  • [Drug Toxicity]
    [etoposide]
    Risk or phenotype-associated allele: not stated Phenotype: Using a Quantitative Transmission Disequilibrium Test (QTDT), this variant was significantly associated with etoposide toxicity based upon IC50 values in cell lines from 30 parent-child trios. Study size: 89. Study population/ethnicity: 89 Yorubans. Significance metric(s): p = 0.00009. Type of association: FA; GN.
    www.ncbi.nlm.nih.gov/pubmed/17537913

Other in silico analyses
 

  • GET-Evidence autoscore = 1

Edit history
 

Gene search

"GENE" or "GENE A123C":

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