chr16:50744624:C>A Detail (hg19) (NOD2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr16:50,744,624-50,744,624 |
| hg38 | chr16:50,710,713-50,710,713 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001293557.1:c.802C>A | NP_001280486.1:p.Pro268Thr |
| NM_022162.2:c.802C>A | NP_071445.1:p.Pro268Thr | |
| Ensemble | ENST00000647318.2:c.721C>A | ENST00000647318.2:p.Pro241Thr |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:[No Data.] | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:<0.001 |
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 |
|---|---|---|---|---|---|
| 0.234 | ulcerative colitis | The study indicates that IL23R-rs11805303 and PTPN2-rs2542151 might contribute t... | BeFree | 22426692 | Detail |
| 0.327 | ulcerative colitis | The study indicates that IL23R-rs11805303 and PTPN2-rs2542151 might contribute t... | BeFree | 22426692 | Detail |
| 0.129 | ulcerative colitis | The study indicates that IL23R-rs11805303 and PTPN2-rs2542151 might contribute t... | BeFree | 22426692 | Detail |
| 0.034 | Inflammatory Bowel Diseases | In all, 612 patients with well-characterised inflammatory bowel disease (252 Sco... | BeFree | 15190267 | Detail |
| 0.002 | Inflammatory Bowel Diseases | In all, 612 patients with well-characterised inflammatory bowel disease (252 Sco... | BeFree | 15190267 | Detail |
| 0.080 | Crohn Disease | We confirmed a strong association between three NOD2/CARD15 gene variants (Pro26... | BeFree | 18715515 | Detail |
| 0.397 | Inflammatory Bowel Diseases | In all, 612 patients with well-characterised inflammatory bowel disease (252 Sco... | BeFree | 15190267 | Detail |
| 0.397 | Inflammatory Bowel Diseases | A case-control study of NOD2 polymorphisms known to be associated with Crohn's d... | BeFree | 12115195 | Detail |
| 0.234 | ulcerative colitis | A case-control study of NOD2 polymorphisms known to be associated with Crohn's d... | BeFree | 12115195 | Detail |
| 0.012 | Inflammatory Bowel Diseases | In all, 612 patients with well-characterised inflammatory bowel disease (252 Sco... | BeFree | 15190267 | Detail |
| 0.560 | Crohn Disease | We confirmed a strong association between three NOD2/CARD15 gene variants (Pro26... | BeFree | 18715515 | Detail |
| 0.080 | Crohn Disease | We confirmed a strong association between three NOD2/CARD15 gene variants (Pro26... | BeFree | 18715515 | Detail |
| 0.368 | Crohn Disease | We confirmed a strong association between three NOD2/CARD15 gene variants (Pro26... | BeFree | 18715515 | Detail |
| 0.234 | ulcerative colitis | Recent studies from India have reported an association with UC and a single poly... | BeFree | 24145928 | Detail |
| 0.560 | Crohn Disease | A case-control study of NOD2 polymorphisms known to be associated with Crohn's d... | BeFree | 12115195 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| The study indicates that IL23R-rs11805303 and PTPN2-rs2542151 might contribute to the development of... | DisGeNET | Detail |
| The study indicates that IL23R-rs11805303 and PTPN2-rs2542151 might contribute to the development of... | DisGeNET | Detail |
| The study indicates that IL23R-rs11805303 and PTPN2-rs2542151 might contribute to the development of... | DisGeNET | Detail |
| In all, 612 patients with well-characterised inflammatory bowel disease (252 Scottish CD, 247 Scotti... | DisGeNET | Detail |
| In all, 612 patients with well-characterised inflammatory bowel disease (252 Scottish CD, 247 Scotti... | DisGeNET | Detail |
| We confirmed a strong association between three NOD2/CARD15 gene variants (Pro268Ser, OR = 2.52, 95%... | DisGeNET | Detail |
| In all, 612 patients with well-characterised inflammatory bowel disease (252 Scottish CD, 247 Scotti... | DisGeNET | Detail |
| A case-control study of NOD2 polymorphisms known to be associated with Crohn's disease (CD) (Pro(268... | DisGeNET | Detail |
| A case-control study of NOD2 polymorphisms known to be associated with Crohn's disease (CD) (Pro(268... | DisGeNET | Detail |
| In all, 612 patients with well-characterised inflammatory bowel disease (252 Scottish CD, 247 Scotti... | DisGeNET | Detail |
| We confirmed a strong association between three NOD2/CARD15 gene variants (Pro268Ser, OR = 2.52, 95%... | DisGeNET | Detail |
| We confirmed a strong association between three NOD2/CARD15 gene variants (Pro268Ser, OR = 2.52, 95%... | DisGeNET | Detail |
| We confirmed a strong association between three NOD2/CARD15 gene variants (Pro268Ser, OR = 2.52, 95%... | DisGeNET | Detail |
| Recent studies from India have reported an association with UC and a single polymorphism (SNP) in CA... | DisGeNET | Detail |
| A case-control study of NOD2 polymorphisms known to be associated with Crohn's disease (CD) (Pro(268... | DisGeNET | Detail |
Overlapped Transcript Coordinates
| Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
|---|
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- Genome
- hg19
- Position
- chr16:50,744,624-50,744,624
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- A
- East Asian Chromosome Counts (ExAC)
- 8564
- East Asian Allele Counts (ExAC)
- 0
- East Asian Heterozygous Counts (ExAC)
- 0
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 0.0
- Chromosome Counts in All Race (ExAC)
- 119820
- Allele Counts in All Race (ExAC)
- 1
- Heterozygous Counts in All Race (ExAC)
- 1
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 8.345852111500584E-6
Genome browser