chr16:50729871:>C Detail (hg38) (NOD2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr16:50,763,782-50,763,782 |
| hg38 | chr16:50,729,871-50,729,871 |
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 |
|---|---|---|---|---|---|
| 0.397 | Inflammatory Bowel Diseases | In genotype-association SNP analysis, all NOD2 SNPs (rs5743293, rs2066844, rs206... | BeFree | 22269043 | Detail |
| 0.340 | Inflammatory Bowel Diseases | In genotype-association SNP analysis, all NOD2 SNPs (rs5743293, rs2066844, rs206... | BeFree | 22269043 | Detail |
| 0.560 | Crohn Disease | NOD2/CARD15 is involved in the innate immune response and three polymorphisms in... | BeFree | 19570052 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| In genotype-association SNP analysis, all NOD2 SNPs (rs5743293, rs2066844, rs2066845) and the IL23r ... | DisGeNET | Detail |
| In genotype-association SNP analysis, all NOD2 SNPs (rs5743293, rs2066844, rs2066845) and the IL23r ... | DisGeNET | Detail |
| NOD2/CARD15 is involved in the innate immune response and three polymorphisms in this gene (Arg702Tr... | 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
- rs5743293 dbSNP
- Genome
- hg38
- Position
- chr16:50,729,871-50,729,871
- Variant Type
- snv
- Reference Allele
- -
- Alternative Allele
- C
Genome browser