chr6:32552110:C>G Detail (hg19) (HLA-DRB1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr6:32,552,110-32,552,110 |
| hg38 | chr6:32,584,333-32,584,333 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_002124.3:c.146G>C | NP_002115.2:p.Gly49Ala |
| Ensemble | ENST00000360004.6:c.146G>C | ENST00000360004.6:p.Gly49Ala |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.275 | Diabetes Mellitus, Insulin-Dependent | Our data indicate that CTLA-4 exon 1 position 49 A/G dimorphism was significantl... | BeFree | 9690057 | Detail |
| <0.001 | hyperthyroidism | Evaluation of genotypes (HLA DRB1*03, DQA1*05, DQB1*02; CTLA4 49A/G, CT60 A/G; P... | BeFree | 22968483 | Detail |
| <0.001 | hyperthyroidism | Evaluation of genotypes (HLA DRB1*03, DQA1*05, DQB1*02; CTLA4 49A/G, CT60 A/G; P... | BeFree | 22968483 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Our data indicate that CTLA-4 exon 1 position 49 A/G dimorphism was significantly associated with pr... | DisGeNET | Detail |
| Evaluation of genotypes (HLA DRB1*03, DQA1*05, DQB1*02; CTLA4 49A/G, CT60 A/G; PTPN22 C/T) in relati... | DisGeNET | Detail |
| Evaluation of genotypes (HLA DRB1*03, DQA1*05, DQB1*02; CTLA4 49A/G, CT60 A/G; PTPN22 C/T) in relati... | 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
- -
- dbSNP
- rs17879469 dbSNP
- Genome
- hg19
- Position
- chr6:32,552,110-32,552,110
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- G
Genome browser