chr3:119814886:G>A Detail (hg38) (NR1I2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr3:119,533,733-119,533,733 View the variant detail on this assembly version. |
| hg38 | chr3:119,814,886-119,814,886 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_022002.2:c.912-93G>A | |
| NM_003889.3:c.795-93G>A | ||
| NM_033013.2:c.684-93G>A |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.423 | |
| 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 |
|---|---|---|---|---|---|
| 0.007 | Crohn Disease | Genomic DNA from 2823 individuals of Caucasian origin including 859 patients wit... | BeFree | 21830270 | Detail |
| 0.010 | ulcerative colitis | PXR A7635G (rs6785049) variant genotype was associated with a higher risk of UC ... | BeFree | 21245992 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Genomic DNA from 2823 individuals of Caucasian origin including 859 patients with Crohn's disease (C... | DisGeNET | Detail |
| PXR A7635G (rs6785049) variant genotype was associated with a higher risk of UC diagnosis before the... | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs6785049 dbSNP
- Genome
- hg38
- Position
- chr3:119,814,886-119,814,886
- Variant Type
- snv
- Reference Allele
- G
- 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))
- rs6785049
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.4227
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 7084
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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