chr1:67702526:T>G Detail (hg19) (IL23R)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr1:67,702,526-67,702,526 |
| hg38 | chr1:67,236,843-67,236,843 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_144701.2:c.1045+41T>G | |
| Ensemble | ENST00000425614.3:c.280+41T>G | |
| ENST00000347310.10:c.1045+41T>G |
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 |
|---|---|---|---|---|---|
| 0.371 | Crohn Disease | Genome-wide association defines more than 30 distinct susceptibility loci for Cr... | GWASCAT | 18587394 | Detail |
| 0.371 | Crohn Disease | Fucosyltransferase 2 (FUT2) non-secretor status is associated with Crohn's disea... | GWASCAT | 20570966 | Detail |
| 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 |
| 0.371 | Crohn Disease | Genome-wide association study for Crohn's disease in the Quebec Founder Populati... | GWASCAT | 17804789 | Detail |
| 0.001 | psoriasis | Additionally, observed stronger associations with SNPs rs11209026 and rs11465804... | BeFree | 19189980 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| 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 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 |
| Genome-wide association study for Crohn's disease in the Quebec Founder Population identifies multip... | DisGeNET | Detail |
| Additionally, observed stronger associations with SNPs rs11209026 and rs11465804 upon exclusion of I... | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- Genome
- hg19
- Position
- chr1:67,702,526-67,702,526
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- G
- East Asian Chromosome Counts (ExAC)
- 8420
- East Asian Allele Counts (ExAC)
- 4
- East Asian Heterozygous Counts (ExAC)
- 4
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 4.7505938242280285E-4
- Chromosome Counts in All Race (ExAC)
- 119302
- Allele Counts in All Race (ExAC)
- 5250
- Heterozygous Counts in All Race (ExAC)
- 4944
- Homozygous Counts in All Race (ExAC)
- 153
- Allele Frequency in All Race (ExAC)
- 0.044005968047476154
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