chr6:32681631:C>T Detail (hg19)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr6:32,681,631-32,681,631 |
| hg38 | chr6:32,713,854-32,713,854 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:0.853 | |
| 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
|
primary biliary cirrhosis |
not provided
|
MGS000045
(TMGS000098) |
Olivier Gervais | Kyoto University | ||||
|
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
|
other specified viral encephalitis |
not provided
|
MGS000011
(TMGS000016) |
Fumihiko Matsuda | Kyoto University |
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 |
| 0.008 | leprosy | NA | GAD | Detail | |
| 0.128 | IgA glomerulonephritis | [Genome-wide association study identifies susceptibility loci for IgA nephropath... | GAD | 21399633 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| [We identified and then confirmed through replication two new genetic loci for SLE: a promoter-regio... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| [Genome-wide association study identifies susceptibility loci for IgA nephropathy.] | DisGeNET | Detail |
- Gene
- -
- dbSNP
- rs9275596 dbSNP
- Genome
- hg19
- Position
- chr6:32,681,631-32,681,631
- 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))
- rs9275596
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.8532
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 14300
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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