chr11:47282024:C>T Detail (hg19) (NR1H3)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr11:47,282,024-47,282,024 |
| hg38 | chr11:47,260,473-47,260,473 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001130102.2:c.162C>T | NP_001123574.1:p.Ser54= |
| NM_001130101.2:c.297C>T | NP_001123573.1:p.Ser99= | |
| NM_001251934.1:c.315C>T | NP_001238863.1:p.Ser105= |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:0.636 |
| ToMMo:0.646 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.669 |
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 |
|---|---|---|---|---|---|
| 0.003 | 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 |
|---|---|---|
| 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
- -
- Genome
- hg19
- Position
- chr11:47,282,024-47,282,024
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1210
- Mean of sample read depth (HGVD)
- 63.02
- Standard deviation of sample read depth (HGVD)
- 34.51
- Number of reference allele (HGVD)
- 880
- Number of alternative allele (HGVD)
- 1540
- Allele Frequency (HGVD)
- 0.6363636363636364
- Gene Symbol (HGVD)
- NR1H3
- 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))
- rs2279238
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.6456
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 10819
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16758
- East Asian Chromosome Counts (ExAC)
- 8632
- East Asian Allele Counts (ExAC)
- 5778
- East Asian Heterozygous Counts (ExAC)
- 1970
- East Asian Homozygous Counts (ExAC)
- 1904
- East Asian Allele Frequency (ExAC)
- 0.6693697868396663
- Chromosome Counts in All Race (ExAC)
- 121208
- Allele Counts in All Race (ExAC)
- 29969
- Heterozygous Counts in All Race (ExAC)
- 19591
- Homozygous Counts in All Race (ExAC)
- 5189
- Allele Frequency in All Race (ExAC)
- 0.24725265659032408
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