chr6:31572956:A>C Detail (hg19)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr6:31,572,956-31,572,956 |
| hg38 | chr6:31,605,179-31,605,179 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:0.485 | |
| 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
|
biliary cirrhosis, primary |
not provided
|
MGS000089
(TMGS000168) |
Minoru Nakamura Minoru Nakamura |
National Hospital Organization Nagasaki Medical Center National Hospital Organization Nagasaki Medical Center |
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.003 | obesity | Of five studied variants, only two (SEC16B rs10913469, SH2B1 rs4788102) were nom... | BeFree | 23121087 | Detail |
| 0.021 | obesity | Of five studied variants, only two (SEC16B rs10913469, SH2B1 rs4788102) were nom... | BeFree | 23121087 | Detail |
| 0.153 | obesity | Of five studied variants, only two (SEC16B rs10913469, SH2B1 rs4788102) were nom... | BeFree | 23121087 | Detail |
| 0.278 | obesity | Of five studied variants, only two (SEC16B rs10913469, SH2B1 rs4788102) were nom... | BeFree | 23121087 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Of five studied variants, only two (SEC16B rs10913469, SH2B1 rs4788102) were nominally associated wi... | DisGeNET | Detail |
| Of five studied variants, only two (SEC16B rs10913469, SH2B1 rs4788102) were nominally associated wi... | DisGeNET | Detail |
| Of five studied variants, only two (SEC16B rs10913469, SH2B1 rs4788102) were nominally associated wi... | DisGeNET | Detail |
| Of five studied variants, only two (SEC16B rs10913469, SH2B1 rs4788102) were nominally associated wi... | DisGeNET | Detail |
- Gene
- -
- dbSNP
- rs2844479 dbSNP
- Genome
- hg19
- Position
- chr6:31,572,956-31,572,956
- Variant Type
- snv
- Reference Allele
- A
- 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))
- rs2844479
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.4854
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 8136
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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