HLA-DQA1
| is a | gene |
| is | mentioned by |
| Full name | major histocompatibility complex, class II, DQ alpha 1 |
| EntrezGene | 3117 |
| PheGenI | 3117 |
| VariationViewer | 3117 |
| ClinVar | HLA-DQA1 |
| GeneCards | HLA-DQA1 |
| dbSNP | 3117 |
| Diseases | HLA-DQA1 |
| SADR | 3117 |
| HugeNav | 3117 |
| wikipedia | HLA-DQA1 |
| HLA-DQA1 | |
| gopubmed | HLA-DQA1 |
| EVS | HLA-DQA1 |
| HEFalMp | HLA-DQA1 |
| MyGene2 | HLA-DQA1 |
| 23andMe | HLA-DQA1 |
| UniProt | P01909 |
| Ensembl | ENSG00000196735 |
| OMIM | 146880 |
| # SNPs | 15 |
| Max Magnitude | Chromosome position | Summary | |
|---|---|---|---|
| rs1047992 | 0 | 32,637,489 | |
| rs1048372 | 0 | 32,642,659 | |
| rs1071630 | 0 | 32,641,349 | |
| rs1129740 | 0 | 32,641,328 | |
| rs12722042 | 0 | 32,637,532 | |
| rs12722051 | 0 | 32,641,370 | |
| rs17612858 | 3 | 32,652,845 | |
| rs2187668 | 3 | 32,638,107 | |
| rs2858876 | 0 | 32,653,058 | |
| rs41269979 | 0 | 32,653,058 | |
| rs6927022 | 0 | 32,644,620 | |
| rs7990 | 0 | 32,642,188 | |
| rs9272346 | 3 | 32,636,595 | Type-1 diabetes |
| rs9272535 | 0 | 32,638,979 | |
| rs9273012 | 0 | 32,643,864 |
HLA-DQA1 codes for the alpha 1 subunit of the HLA-DQ MHC cell surface receptor, which is important for organ donation and immune diseases. There are four common alleles: DQA1*0101, *0102, *0103, *0104, with 33 total. The combination with HLA-DQB1 forms the modern DQ serotypes: DQ2, DQ4-9. DQ1 was split into 5 and 6, while 3 was removed for lacking specificity.
Missense variants C34Y (rs1129740) and F41S (rs1071630) were replicated in studies of South Asians and white Europeans to be associated with SSNS(Steroid-sensitive nephrotic syndrome)[PMID 25349203]. rs2187668 was significantly associated with idiopathic membranous nephropathy in French, Dutch, and British [PMID 21323541].
rs9272346, near DQA1, was associated with asthma [PMID 23181788].
