chr6:32670255:C>T Detail (hg19)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr6:32,670,255-32,670,255 |
| hg38 | chr6:32,702,478-32,702,478 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:0.481 | |
| 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 |
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.043 | Lupus Erythematosus, Systemic | [We identified and then confirmed through replication two new genetic loci for S... | GAD | 18204098 | Detail |
| 0.009 | hepatitis B | This was a retrospective cohort study.We genotyped seven SNPs in the following g... | BeFree | 25376093 | Detail |
| 0.011 | hepatitis B | This was a retrospective cohort study.We genotyped seven SNPs in the following g... | BeFree | 25376093 | Detail |
| 0.018 | hepatitis B | Our study demonstrated the clear relevance of HLA-DQ rs2856718 and rs9275572 wit... | BeFree | 24750255 | Detail |
| 0.016 | Hepatitis B, Chronic | [A genome-wide association study of chronic hepatitis B identified novel risk lo... | GAD | 21750111 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| [We identified and then confirmed through replication two new genetic loci for SLE: a promoter-regio... | DisGeNET | Detail |
| This was a retrospective cohort study.We genotyped seven SNPs in the following genes, interleukin (I... | DisGeNET | Detail |
| This was a retrospective cohort study.We genotyped seven SNPs in the following genes, interleukin (I... | DisGeNET | Detail |
| Our study demonstrated the clear relevance of HLA-DQ rs2856718 and rs9275572 with HBV susceptibility... | DisGeNET | Detail |
| [A genome-wide association study of chronic hepatitis B identified novel risk locus in a Japanese po... | DisGeNET | Detail |
- Gene
- -
- dbSNP
- rs2856718 dbSNP
- Genome
- hg19
- Position
- chr6:32,670,255-32,670,255
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- 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))
- rs2856718
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.4805
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 8053
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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