chr11:47280653:G>A Detail (hg19) (NR1H3)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr11:47,280,653-47,280,653 |
| hg38 | chr11:47,259,102-47,259,102 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001251934.1:c.62-689G>A | |
| NM_001251935.1:c.62-689G>A | ||
| NM_005693.3:c.-37-78G>A |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.092 | |
| 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 |
|---|---|---|---|---|---|
| <0.001 | Cerebrovascular accident | We conclude that the rs12221497 polymorphism in the LXRα gene was associated wit... | BeFree | 25867319 | Detail |
| 0.003 | Diabetes Mellitus, Non-Insulin-Dependent | One thousand five hundred seventy-four subjects of European ancestry with elevat... | BeFree | 21042792 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| We conclude that the rs12221497 polymorphism in the LXRα gene was associated with the susceptibility... | DisGeNET | Detail |
| One thousand five hundred seventy-four subjects of European ancestry with elevated risk for type 2 d... | 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
- rs12221497 dbSNP
- Genome
- hg19
- Position
- chr11:47,280,653-47,280,653
- 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))
- rs12221497
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0917
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 1536
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16758
Genome browser