chr6:33059996:T>G Detail (hg19)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr6:33,059,996-33,059,996 |
| hg38 | chr6:33,092,219-33,092,219 View the variant detail on this assembly version. |
HGVS
[No Data.]
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.556 | |
| 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 | |
Links
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
not provided
|
hepatitis B |
MGS000002
(TMGS000002) |
Masashi Mizokami | National Center for Global Health and Medicine | |||||
|
not provided
|
biliary cirrhosis, primary |
not provided
|
MGS000089
(TMGS000168) |
Minoru Nakamura Minoru Nakamura |
National Hospital Organization Nagasaki Medical Center National Hospital Organization Nagasaki Medical Center |
||||
|
not provided
|
hepatitis B |
MGS000027
(TMGS000047) |
Masashi Mizokami | National Center for Global Health and Medicine |
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.123 | hepatitis B | We genotyped SNPs rs3077 (near HLA-DPA1) and rs9277378 and rs3128917 (both near ... | BeFree | 23825586 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| We genotyped SNPs rs3077 (near HLA-DPA1) and rs9277378 and rs3128917 (both near HLA-DPB1) in 500 HBV... | DisGeNET | Detail |
- Gene
- -
- dbSNP
- rs3128917 dbSNP
- Genome
- hg19
- Position
- chr6:33,059,996-33,059,996
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- G
- 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))
- rs3128917
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.5564
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 9326
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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