HLA-DQA1 Q57E - 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!



(HLA-DQA1 Gln57Glu)

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 @ chr6:32609173: 26.5% (2835/10702) in EVS
  • G @ chr6:32717150: 35.1% (33/94) in GET-Evidence
  • Frequency shown in summary reports: 26.5% (2835/10702)






hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het G @ chr6:32609173













hu9385BA - CGI sample GS00253-DNA_E01_200_37
hom G @ chr6:32609173







huE80E3D - CGI sample GS00253-DNA_D01_200_37
hom G @ chr6:32609173



GS06994 - var-GS06994-1100-36-ASM
hom G @ chr6:32717151


GS07357 - var-GS07357-1100-36-ASM
het G @ chr6:32717151


GS10851 - var-GS10851-1100-36-ASM
hom G @ chr6:32717151


GS12004 - var-GS12004-1100-36-ASM
het G @ chr6:32717151


GS18501 - var-GS18501-1100-36-ASM
het G @ chr6:32717151


GS18504 - var-GS18504-1100-36-ASM
het G @ chr6:32717151


GS18508 - var-GS18508-1100-36-ASM
hom G @ chr6:32717151


GS18517 - var-GS18517-1100-36-ASM
het G @ chr6:32717151


GS18555 - var-GS18555-1100-36-ASM
het G @ chr6:32717151


GS19025 - var-GS19025-1100-36-ASM
hom G @ chr6:32717151


GS19129 - var-GS19129-1100-36-ASM
het G @ chr6:32717151


GS19834 - var-GS19834-1100-36-ASM
het G @ chr6:32717151


Other external references

  • rs10093
    Web search results (3 hits -- see all)
  • AceView: Gene:HLA-DQA1, a comprehensive annotation of human ...
    AceView offers a comprehensive annotation of human, mouse and nematode genes reconstructed by co-alignment and clustering of all publicly available mRNAs and ESTs on ...
  • Type II- 95%
    ... SWISS-PROT ID Variant site Phosphorylation site SWISS-PROT variant ID Removed ... Polymorphism (dbSNP:rs2287669) 11230166 HLA-DPB1 P04440 L207M 198 VAR_033447 ...
  • In vivo antigen challenge in celiac disease identifies a single
    4. Molberg, O. et al. Gliadin specific, HLA DQ2-restricted T cells are commonly ... 20. Olerup, O., Aldener, A. & Fogdell, A. HLA-DQB1 and DQA1 typing by PCR am ...

Other in silico analyses

  • NBLOSUM100 score = –2
  • GET-Evidence autoscore = 3

Edit history

Gene search

"GENE" or "GENE A123C":

Log in