rs10810865 - 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.

Please help improve GET-Evidence by evaluating evidence for this variant!

Curation:
Currentness:

rs10810865


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

unknown

Summary of published research, and additional commentary

 

Allele frequency

  • C @ chr9:17885104: 10.2% (13/128) in GET-Evidence
  • Frequency shown in summary reports: 10.2% (13/128)

Publications
 

Genomes
 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het C @ chr9:17895105

 

 

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
het C @ chr9:17895105

 

 

 

 

 

 

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het C @ chr9:17895105

 

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
het C @ chr9:17895105

 

 

GS07357 - var-GS07357-1100-36-ASM
het C @ chr9:17885105

 

GS18537 - var-GS18537-1100-36-ASM
het C @ chr9:17885105

 

GS18555 - var-GS18555-1100-36-ASM
het C @ chr9:17885105

 

GS18947 - var-GS18947-1100-36-ASM
het C @ chr9:17885105

 

GS19648 - var-GS19648-1100-36-ASM
het C @ chr9:17885105

 

Other external references
 

    dbSNP
  • rs10810865
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    GWAS
  • Cognitive performance (rs10810865-?)
    Need 4-Sep-09 in Hum Mol Genet
    OR or beta: NR NR
    Risk allele frequency: 0.13
    p-value: 0.000004 (PAL6)
    Initial sample: 1,295 individuals
    Replication sample: NR
    www.ncbi.nlm.nih.gov/pubmed/19734545

Other in silico analyses
 

  • GET-Evidence autoscore = 1

Edit history
 

Gene search

"GENE" or "GENE A123C":

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