AOX1 N1135S - 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!


AOX1 N1135S

(AOX1 Asn1135Ser)

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 @ chr2:201526330: 17.4% (1871/10758) in EVS
  • G @ chr2:201234574: 14.1% (18/128) in GET-Evidence
  • Frequency shown in summary reports: 17.4% (1871/10758)


Smith MA, Marinaki AM, Arenas M, Shobowale-Bakre M, Lewis CM, Ansari A, Duley J, Sanderson JD. Novel pharmacogenetic markers for treatment outcome in azathioprine-treated inflammatory bowel disease. Aliment Pharmacol Ther. 2009 Aug 15;30(4):375-84. Epub 2009 Jun 3. PubMed PMID: 19500084.



hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het G @ chr2:201526330


hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
het G @ chr2:201526330


hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
het G @ chr2:201526330


hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
het G @ chr2:201526330



hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
het G @ chr2:201526330


huAE6220 - CGI sample GS00253-DNA_H01_200_37
het G @ chr2:201526330


huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
het G @ chr2:201526330


huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het G @ chr2:201526330


GS10851 - var-GS10851-1100-36-ASM
het G @ chr2:201234575


GS18501 - var-GS18501-1100-36-ASM
hom G @ chr2:201234575


GS18517 - var-GS18517-1100-36-ASM
het G @ chr2:201234575


GS19017 - var-GS19017-1100-36-ASM
het G @ chr2:201234575


GS19020 - var-GS19020-1100-36-ASM
het G @ chr2:201234575


GS19129 - var-GS19129-1100-36-ASM
het G @ chr2:201234575


GS19239 - var-GS19239-1100-36-ASM
het G @ chr2:201234575


GS19648 - var-GS19648-1100-36-ASM
het G @ chr2:201234575


GS19649 - var-GS19649-1100-36-ASM
het G @ chr2:201234575


GS19700 - var-GS19700-1100-36-ASM
het G @ chr2:201234575


GS19703 - var-GS19703-1100-36-ASM
hom G @ chr2:201234575


Other external references

  • rs55754655
  • [Inflammatory Bowel Diseases]
    A study in a cohort of 192 patients receiving azathioprine for inflammatory bowel disease found that this SNP in the AOX1 gene predicted lack of azathioprine response (p=0.035, OR 2.54, 95%CI 1.06-6.13).

Other in silico analyses

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 1

Edit history

Gene search

"GENE" or "GENE A123C":

Log in