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!



Short summary


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


Insufficiently evaluated pathogenic

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




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

  • rs1497546

Other in silico analyses

  • GET-Evidence autoscore = 2

Edit history

Gene search

"GENE" or "GENE A123C":

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