SAMD9L G1137A - 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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(SAMD9L Gly1137Ala)

Short summary


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


Insufficiently evaluated not reviewed

(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 @ chr7:92761875: 3.9% (421/10758) in EVS
  • G @ chr7:92599810: 3.1% (4/128) in GET-Evidence
  • Frequency shown in summary reports: 3.9% (421/10758)





GS19026 - var-GS19026-1100-36-ASM
het G @ chr7:92599811


GS19703 - var-GS19703-1100-36-ASM
het G @ chr7:92599811


Other external references

  • rs17165111
  • Score: 0 (benign)
    Web search results (3 hits -- see all)
  • SAMD9L Gene - GeneCards | SAM9L Protein | SAM9L Antibody
    SAMD9L Gene in genomic location: bands according to Ensembl, locations according to (and ... Sigma-Aldrich Antibodies for SAMD9L. Browse R&D Systems for Antibodies ...
  • Sterile alpha motif domain-containing protein 9-like - Homo ...
    Databases that you can search in. Query. Enter your search text here ... G A: dbSNP rs17165111. VAR_030913. Natural variant. 1516. 1. N T: dbSNP rs10282508. ...
  • Mooney Lab - MutDB
    SAMD9L. Number of Transcript Variants. 0. Visualize Pathways. Using web services (slow) ... DBSNP:rs17165111. 1136. G A. NCBI. In dbsnp. None. Not scored. DBSNP:rs10282508. 1515. N T. NCBI ...

Other in silico analyses

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 2

Edit history

Gene search

"GENE" or "GENE A123C":

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