rs10947089 - GET-Evidence

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

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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

  • G @ chr6:30818113: 4.7% (6/128) in GET-Evidence
  • Frequency shown in summary reports: 4.7% (6/128)


Do TN, Ucisik-Akkaya E, Davis CF, Morrison BA, Dorak MT. TP53 R72P and MDM2 SNP309 polymorphisms in modification of childhood acute lymphoblastic leukemia susceptibility. Cancer Genet Cytogenet. 2009 Nov;195(1):31-6. PubMed PMID: 19837266.





huAE6220 - CGI sample GS00253-DNA_H01_200_37
het G @ chr6:30710135



GS18502 - var-GS18502-1100-36-ASM
het G @ chr6:30818114


GS18504 - var-GS18504-1100-36-ASM
het G @ chr6:30818114


GS18517 - var-GS18517-1100-36-ASM
het G @ chr6:30818114


GS18526 - var-GS18526-1100-36-ASM
het G @ chr6:30818114


GS19703 - var-GS19703-1100-36-ASM
het G @ chr6:30818114


Other external references

  • rs10947089
  • [Precursor Cell Lymphoblastic Leukemia-Lymphoma]
    Risk or phenotype-associated allele, tested allele: unspecified; multi-ethnic minor allele is G per dbSNP Phenotype: In 114 cases and 414 controls (n = 528), univariate analysis of disease association showed OR = 0.18 for heterozygote (no carriers of homozygote variant in controls), versus homozygous wild type, in ALL, with P(trend) OR = 1.23, p = 0.61 using an additive model. Study size: 528. Study population/ethnicity: Childhood acute lymphoblastic leukemia (<=14 years) and healthy newborn controls (1988 to 1999) from South Wales in the United Kingdom. Significance metric(s): Non-significant finding p = 0.61. Type of association: CO.

Other in silico analyses

  • GET-Evidence autoscore = 1

Edit history

Gene search

"GENE" or "GENE A123C":

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