chr6:33087470:T>C Detail (hg38) (HLA-DPB1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr6:33,055,247-33,055,247 View the variant detail on this assembly version. |
| hg38 | chr6:33,087,470-33,087,470 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_002121.5:c.*936T>C | |
| Ensemble | ENST00000418931.7:c.*936T>C | |
| ENST00000428835.6:c.*936T>C |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.577 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:[No Data.] |
Prediction
ClinVar
| Clinical Significance | |
| Review star | [No Data.] |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.248 | Hepatitis B, Chronic | We also found that the HLA-DPA1 and HLA-DPB1 genes were significantly associated... | BeFree | 22737229 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| We also found that the HLA-DPA1 and HLA-DPB1 genes were significantly associated with protective eff... | 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
- rs9277542 dbSNP
- Genome
- hg38
- Position
- chr6:33,087,470-33,087,470
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
- ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- PASS
- Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- rs9277542
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.5774
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 9677
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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