chr6:32741391:> Detail (hg38)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr6:32,709,168-32,714,975 |
| hg38 | chr6:32,741,391-32,747,198 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
[No Data.]
ClinVar
| Clinical Significance | |
| Review star | [No Data.] |
| Show details | |
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.007 | celiac disease | HLA-DQ2 protein encoded by HLA-DQA1*05 and DQB1*02 alleles is found in 90-95% of... | BeFree | 25172978 | Detail |
| 0.007 | celiac disease | As expected, all CD patients had at least one of the CD-associated alleles, and ... | BeFree | 25413104 | Detail |
| 0.007 | celiac disease | We like to suggest that the haplotype HLA-DQA1*03-DQB1*03:03 (HLA-DQ9.3), which ... | BeFree | 26496305 | Detail |
| <0.001 | Malignant tumor of cervix | NA | BeFree | Detail | |
| <0.001 | cystic fibrosis | NA | BeFree | Detail | |
| <0.001 | dermatitis herpetiformis | NA | BeFree | Detail | |
| <0.001 | scleroderma | NA | BeFree | Detail | |
| 0.019 | Diabetes Mellitus, Insulin-Dependent | NA | BeFree,GAD | Detail | |
| <0.001 | Diabetes Mellitus, Non-Insulin-Dependent | NA | BeFree | Detail | |
| <0.001 | duodenal ulcer | NA | BeFree | Detail | |
| <0.001 | Esophageal Achalasia | NA | BeFree | Detail | |
| <0.001 | Disorder of eye | NA | BeFree | Detail | |
| <0.001 | Fatigue | NA | BeFree | Detail | |
| <0.001 | Gastritis, Atrophic | NA | BeFree | Detail | |
| <0.001 | membranous glomerulonephritis | PLA2R-associated membranous glomerulopathy is modulated by common variants in PL... | BeFree | 25187357 | Detail |
| <0.001 | membranous glomerulonephritis | A genome-wide association study further showed a highly significant association ... | BeFree | 25401774 | Detail |
| 0.004 | Graves Disease | NA | BeFree | Detail | |
| <0.001 | hepatitis B | We confirmed that HLA-DPB1, HLA-DQA2 and HLA-DQB2 loci were associated with pers... | BeFree | 24940741 | Detail |
| <0.001 | irritable bowel syndrome | Two Type III CD patients with relatively high titers in the serologic assay were... | BeFree | 26496305 | Detail |
| <0.001 | Keloid | NA | BeFree | Detail | |
| <0.001 | Leishmaniasis, Visceral | NA | BeFree | Detail | |
| <0.001 | leprosy | NA | BeFree | Detail | |
| <0.001 | liver cirrhosis | NA | BeFree | Detail | |
| <0.001 | Liver diseases | NA | BeFree | Detail | |
| 0.004 | Lupus Erythematosus, Systemic | NA | BeFree,GAD | Detail | |
| <0.001 | lymphoma | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of stomach | NA | BeFree | Detail | |
| <0.001 | melanoma | NA | BeFree | Detail | |
| <0.001 | mitral valve stenosis | NA | BeFree | Detail | |
| 0.001 | multiple sclerosis | This study, which shows for the first time a functional HLA-DQA1/DRB1 mixed isot... | BeFree | 25911099 | Detail |
| <0.001 | myasthenia gravis | NA | BeFree | Detail | |
| <0.001 | myositis | NA | BeFree | Detail | |
| 0.003 | narcolepsy | NA | BeFree,GAD | Detail | |
| <0.001 | pancreatitis | NA | BeFree | Detail | |
| 0.001 | psoriasis | NA | BeFree | Detail | |
| <0.001 | rheumatic fever | NA | BeFree | Detail | |
| <0.001 | rosacea | In addition, three HLA alleles, all MHC class II proteins, were significantly as... | BeFree | 25695682 | Detail |
| <0.001 | systemic scleroderma | NA | BeFree | Detail | |
| <0.001 | ankylosing spondylitis | NA | BeFree | Detail | |
| <0.001 | Takayasu Arteritis | HLA-DQA1, DQB1 and DRB1 alleles associated with Takayasu arteritis in the Chines... | BeFree | 25636572 | Detail |
| <0.001 | thymoma | NA | BeFree | Detail | |
| <0.001 | vitiligo | NA | BeFree | Detail | |
| 0.002 | Idiopathic Membranous Glomerulonephritis | NA | BeFree | Detail | |
| <0.001 | Squamous cell carcinoma of lung | NA | BeFree | Detail | |
| <0.001 | Adenocarcinoma of lung (disorder) | NA | BeFree | Detail | |
| <0.001 | Pauciarticular juvenile rheumatoid arthritis | NA | BeFree | Detail | |
| <0.001 | Aortic Aneurysm, Abdominal | NA | BeFree | Detail | |
| <0.001 | Autoimmune thyroid disease | NA | BeFree | Detail | |
| <0.001 | congenital diaphragmatic hernia | NA | BeFree | Detail | |
| <0.001 | Hereditary pancreatitis | In Asian population, the protective gene HLA-DQB1*0303 and the susceptible genes... | BeFree | 25773770 | Detail |
| 0.002 | Dermatomyositis, Childhood Type | NA | BeFree | Detail | |
| <0.001 | Rheumatic mitral stenosis | NA | BeFree | Detail | |
| <0.001 | gastric adenocarcinoma | NA | BeFree | Detail | |
| <0.001 | Squamous cell carcinoma of esophagus | NA | BeFree | Detail | |
| <0.001 | cervix carcinoma | NA | BeFree | Detail | |
| <0.001 | Common acute lymphoblastic leukemia | NA | BeFree | Detail | |
| <0.001 | Helicobacter pylori (H. pylori) infection in conditions classified elsewhere and of unspecified site | NA | BeFree | Detail | |
| <0.001 | Steroid-sensitive nephrotic syndrome | In conclusion, this exome array study identified HLA-DQA1 and PLCG2 missense cod... | BeFree | 25349203 | Detail |
| <0.001 | Seropositive rheumatoid arthritis | NA | BeFree | Detail | |
| <0.001 | Neonatal Systemic lupus erythematosus | NA | BeFree | Detail | |
| 0.121 | Hepatitis B, Chronic | NA | BeFree,GWASCAT | Detail | |
| <0.001 | Hepatitis C, Chronic | NA | BeFree | Detail | |
| <0.001 | breast carcinoma | NA | BeFree | Detail | |
| <0.001 | stomach carcinoma | NA | BeFree | Detail | |
| <0.001 | Myasthenia Gravis, Ocular | NA | BeFree | Detail | |
| <0.001 | Idiopathic Inflammatory Myopathies | NA | BeFree | Detail | |
| <0.001 | Gluten sensitivity | NA | BeFree | Detail | |
| <0.001 | Helicobacter pylori infection | NA | BeFree | Detail | |
| <0.001 | cervical dystonia | NA | BeFree | Detail | |
| <0.001 | diffuse scleroderma | NA | BeFree | Detail | |
| <0.001 | Localized vitiligo | NA | BeFree | Detail | |
| <0.001 | Generalized vitiligo | NA | BeFree | Detail | |
| 0.001 | Cardiomyopathy, Familial Idiopathic | NA | BeFree | Detail | |
| <0.001 | Chronic iridocyclitis | NA | BeFree | Detail | |
| <0.001 | VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding) | NA | BeFree | Detail | |
| 0.002 | Juvenile dermatomyositis | NA | BeFree | Detail | |
| <0.001 | juvenile rheumatoid arthritis | NA | BeFree | Detail | |
| 0.002 | Spontaneous abortion | NA | GAD | Detail | |
| <0.001 | adenocarcinoma | NA | BeFree | Detail | |
| <0.001 | arthritis | NA | BeFree | Detail | |
| 0.003 | asthma | The cluster analysis of these DEGs showed that 4 genes, including human leukocyt... | BeFree,GAD | 24838153 | Detail |
| 0.001 | Autoimmune Diseases | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of breast | NA | BeFree | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| HLA-DQ2 protein encoded by HLA-DQA1*05 and DQB1*02 alleles is found in 90-95% of CD patients. | DisGeNET | Detail |
| As expected, all CD patients had at least one of the CD-associated alleles, and the highest CD risk ... | DisGeNET | Detail |
| We like to suggest that the haplotype HLA-DQA1*03-DQB1*03:03 (HLA-DQ9.3), which is common in Chinese... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| PLA2R-associated membranous glomerulopathy is modulated by common variants in PLA2R1 and HLA-DQA1 ge... | DisGeNET | Detail |
| A genome-wide association study further showed a highly significant association of the PLA2R1 and th... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| We confirmed that HLA-DPB1, HLA-DQA2 and HLA-DQB2 loci were associated with persistent HBV infection... | DisGeNET | Detail |
| Two Type III CD patients with relatively high titers in the serologic assay were homozygous and hete... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| This study, which shows for the first time a functional HLA-DQA1/DRB1 mixed isotype heterodimer and ... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| In addition, three HLA alleles, all MHC class II proteins, were significantly associated with rosace... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| HLA-DQA1, DQB1 and DRB1 alleles associated with Takayasu arteritis in the Chinese Han population. | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| In Asian population, the protective gene HLA-DQB1*0303 and the susceptible genes HLA-DQB1*0401, HLA-... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| In conclusion, this exome array study identified HLA-DQA1 and PLCG2 missense coding variants as cand... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| The cluster analysis of these DEGs showed that 4 genes, including human leukocyte antigen (HLA-DQA1)... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
Overlapped Transcript Coordinates
| Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
|---|
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- Genome
- hg38
- Position
- chr6:32,741,391-32,747,198
- Variant Type
- snv
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