chr3:119815306:C>G Detail (hg38) (NR1I2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr3:119,534,153-119,534,153 View the variant detail on this assembly version. |
| hg38 | chr3:119,815,306-119,815,306 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_022002.2:c.1055-17C>G | |
| NM_003889.3:c.938-17C>G | ||
| NM_033013.2:c.827-17C>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 |
|---|---|---|---|---|---|
| 0.007 | Crohn Disease | Genomic DNA from 2823 individuals of Caucasian origin including 859 patients wit... | BeFree | 21830270 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Genomic DNA from 2823 individuals of Caucasian origin including 859 patients with Crohn's disease (C... | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- Genome
- hg38
- Position
- chr3:119,815,306-119,815,306
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- G
- East Asian Chromosome Counts (ExAC)
- 8628
- 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)
- 121164
- Allele Counts in All Race (ExAC)
- 60
- Heterozygous Counts in All Race (ExAC)
- 36
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 4.951965930474399E-4
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