chr16:50747704:C>T Detail (hg19) (NOD2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr16:50,747,704-50,747,704 |
| hg38 | chr16:50,713,793-50,713,793 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001293557.1:c.2462+1420C>T | |
| NM_022162.2:c.2462+1420C>T | ||
| Ensemble | ENST00000647318.2:c.2381+1420C>T |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.052 | |
| 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 | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.560 | Crohn Disease | We observed the association between Crohn's disease and NOD2 (rs17313265, 0.28 i... | BeFree | 25259511 | Detail |
| 0.371 | Crohn Disease | We observed the association between Crohn's disease and NOD2 (rs17313265, 0.28 i... | BeFree | 25259511 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| We observed the association between Crohn's disease and NOD2 (rs17313265, 0.28 in CD, 0.19 in contro... | DisGeNET | Detail |
| We observed the association between Crohn's disease and NOD2 (rs17313265, 0.28 in CD, 0.19 in contro... | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs17313265 dbSNP
- Genome
- hg19
- Position
- chr16:50,747,704-50,747,704
- 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))
- rs17313265
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0515
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 863
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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