chr1:67256884:C>A Detail (hg38) (IL23R)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr1:67,722,567-67,722,567 View the variant detail on this assembly version. |
hg38 | chr1:67,256,884-67,256,884 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_144701.2:c.1239+957C>A | |
Ensemble | ENST00000347310.10:c.1239+957C>A | |
ENST00000425614.3:c.474+957C>A |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:[No Data.] |
ToMMo:0.695 | |
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 |
---|---|---|---|---|---|
0.371 | Crohn Disease | Genome-wide association study for Crohn's disease in the Quebec Founder Populati... | GWASCAT | 17804789 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
Genome-wide association study for Crohn's disease in the Quebec Founder Population identifies multip... | DisGeNET | Detail |
Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
---|
- Gene
- -
- dbSNP
- rs10889676 dbSNP
- Genome
- hg38
- Position
- chr1:67,256,884-67,256,884
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- A
- 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))
- rs10889676
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.695
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 11648
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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