chr16:50729867:>C Detail (hg38) (NOD2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr16:50,763,778-50,763,778 |
| hg38 | chr16:50,729,867-50,729,867 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
[No Data.]
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 |
|---|---|---|---|---|---|
| 0.560 | Crohn Disease | The NOD2 p.Leu1007fsX1008 mutation (rs2066847) is a stronger predictor of the cl... | BeFree | 25365249 | Detail |
| <0.001 | Crohn Disease | The NOD2 p.Leu1007fsX1008 mutation (rs2066847) is a stronger predictor of the cl... | BeFree | 25365249 | Detail |
| 0.234 | ulcerative colitis | Genomic DNA from 2700 Caucasians including 812 patients with Crohn's disease (CD... | BeFree | 21209938 | Detail |
| 0.560 | Crohn Disease | Host-microbe interactions have shaped the genetic architecture of inflammatory b... | GWASCAT | 23128233 | Detail |
| 0.560 | Crohn Disease | Genome-wide association defines more than 30 distinct susceptibility loci for Cr... | GWASCAT | 18587394 | Detail |
| 0.560 | Crohn Disease | Fucosyltransferase 2 (FUT2) non-secretor status is associated with Crohn's disea... | GWASCAT | 20570966 | Detail |
| 0.002 | pathologic fistula | In contrast, the NOD2 mutant p.Leu1007fsX1008 (rs2066847) was highly associated ... | BeFree | 25365249 | Detail |
| 0.028 | Ileal Diseases | In contrast, the NOD2 mutant p.Leu1007fsX1008 (rs2066847) was highly associated ... | BeFree | 25365249 | Detail |
| 0.234 | ulcerative colitis | One hundred and eighty unrelated IBD patients [57 Crohn's disease (CD) and 123 u... | BeFree | 20082483 | Detail |
| 0.560 | Crohn Disease | One hundred and eighty unrelated IBD patients [57 Crohn's disease (CD) and 123 u... | BeFree | 20082483 | Detail |
| 0.368 | Crohn Disease | One hundred and eighty unrelated IBD patients [57 Crohn's disease (CD) and 123 u... | BeFree | 20082483 | Detail |
| 0.033 | ulcerative colitis | One hundred and eighty unrelated IBD patients [57 Crohn's disease (CD) and 123 u... | BeFree | 20082483 | Detail |
| 0.371 | Crohn Disease | One hundred and eighty unrelated IBD patients [57 Crohn's disease (CD) and 123 u... | BeFree | 20082483 | Detail |
| 0.327 | ulcerative colitis | One hundred and eighty unrelated IBD patients [57 Crohn's disease (CD) and 123 u... | BeFree | 20082483 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| The NOD2 p.Leu1007fsX1008 mutation (rs2066847) is a stronger predictor of the clinical course of Cro... | DisGeNET | Detail |
| The NOD2 p.Leu1007fsX1008 mutation (rs2066847) is a stronger predictor of the clinical course of Cro... | DisGeNET | Detail |
| Genomic DNA from 2700 Caucasians including 812 patients with Crohn's disease (CD), 442 patients with... | DisGeNET | Detail |
| Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. | DisGeNET | Detail |
| Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease. | DisGeNET | Detail |
| Fucosyltransferase 2 (FUT2) non-secretor status is associated with Crohn's disease. | DisGeNET | Detail |
| In contrast, the NOD2 mutant p.Leu1007fsX1008 (rs2066847) was highly associated with penetrating CD ... | DisGeNET | Detail |
| In contrast, the NOD2 mutant p.Leu1007fsX1008 (rs2066847) was highly associated with penetrating CD ... | DisGeNET | Detail |
| One hundred and eighty unrelated IBD patients [57 Crohn's disease (CD) and 123 ulcerative colitis (U... | DisGeNET | Detail |
| One hundred and eighty unrelated IBD patients [57 Crohn's disease (CD) and 123 ulcerative colitis (U... | DisGeNET | Detail |
| One hundred and eighty unrelated IBD patients [57 Crohn's disease (CD) and 123 ulcerative colitis (U... | DisGeNET | Detail |
| One hundred and eighty unrelated IBD patients [57 Crohn's disease (CD) and 123 ulcerative colitis (U... | DisGeNET | Detail |
| One hundred and eighty unrelated IBD patients [57 Crohn's disease (CD) and 123 ulcerative colitis (U... | DisGeNET | Detail |
| One hundred and eighty unrelated IBD patients [57 Crohn's disease (CD) and 123 ulcerative colitis (U... | 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
- -
- dbSNP
- rs2066847 dbSNP
- Genome
- hg38
- Position
- chr16:50,729,867-50,729,867
- Variant Type
- snv
- Reference Allele
- -
- Alternative Allele
- C
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