rs1497546 - 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:

rs1497546


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

  • A @ chr3:99517215: 12.5% (16/128) in GET-Evidence
  • Frequency shown in summary reports: 12.5% (16/128)

Publications
 

Genomes
 

 

GS18502 - var-GS18502-1100-36-ASM
het A @ chr3:99517216

 

GS18504 - var-GS18504-1100-36-ASM
hom A @ chr3:99517216

 

GS18517 - var-GS18517-1100-36-ASM
het A @ chr3:99517216

 

GS19026 - var-GS19026-1100-36-ASM
hom A @ chr3:99517216

 

GS19129 - var-GS19129-1100-36-ASM
het A @ chr3:99517216

 

GS19238 - var-GS19238-1100-36-ASM
het A @ chr3:99517216

 

GS19239 - var-GS19239-1100-36-ASM
het A @ chr3:99517216

 

GS19240 - var-GS19240-1100-36-ASM
hom A @ chr3:99517216

 

GS19700 - var-GS19700-1100-36-ASM
het A @ chr3:99517216

 

GS19701 - var-GS19701-1100-36-ASM
het A @ chr3:99517216

 

GS19703 - var-GS19703-1100-36-ASM
het A @ chr3:99517216

 

GS19704 - var-GS19704-1100-36-ASM
het A @ chr3:99517216

 

GS19834 - var-GS19834-1100-36-ASM
het A @ chr3:99517216

 

Other external references
 

    dbSNP
  • rs1497546
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

Other in silico analyses
 

  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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