chr13:44471317:C>T Detail (hg19)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr13:44,471,317-44,471,317 |
| hg38 | chr13:43,897,181-43,897,181 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:0.161 | |
| 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
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.002 | Behcet Syndrome | [Genome-wide association study identifies variants in the MHC class I, IL10, and... | GAD | 20622878 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| [Genome-wide association study identifies variants in the MHC class I, IL10, and IL23R-IL12RB2 regio... | DisGeNET | Detail |
- Gene
- -
- dbSNP
- rs2121037 dbSNP
- Genome
- hg19
- Position
- chr13:44,471,317-44,471,317
- 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))
- rs2121037
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.1607
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 2694
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
Genome browser