chr11:116763146:G>A Detail (hg38) (BUD13)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr11:116,633,862-116,633,862 View the variant detail on this assembly version. |
| hg38 | chr11:116,763,146-116,763,146 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_032725.3:c.443C>T | NP_116114.1:p.Pro148Leu |
| NM_001159736.1:c.443C>T | NP_001153208.1:p.Pro148Leu | |
| Ensemble | ENST00000260210.5:c.443C>T | ENST00000260210.5:p.Pro148Leu |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:0.002 |
| ToMMo:<0.001 | |
| 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 |
|---|---|---|---|---|---|
| 0.123 | Metabolic syndrome X | [Qualitative and quantitative pleiotropic tests on pairs of traits indicate that... | GAD | 21386085 | Detail |
| 0.123 | Metabolic syndrome X | A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium. | GWASCAT | 21386085 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| [Qualitative and quantitative pleiotropic tests on pairs of traits indicate that a small portion of ... | DisGeNET | Detail |
| A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium. | 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
- hg38
- Position
- chr11:116,763,146-116,763,146
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- Filtering Status (HGVD)
- PASS
- Filtering Status (HGVD)
- LowQual
- # of samples (HGVD)
- 1210
- Mean of sample read depth (HGVD)
- 140.69
- Standard deviation of sample read depth (HGVD)
- 68.77
- Number of reference allele (HGVD)
- 2415
- Number of alternative allele (HGVD)
- 5
- Allele Frequency (HGVD)
- 0.002066115702479339
- Gene Symbol (HGVD)
- BUD13
- 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))
- rs11820589
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0008
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 13
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16758
- East Asian Chromosome Counts (ExAC)
- 8628
- East Asian Allele Counts (ExAC)
- 3
- East Asian Heterozygous Counts (ExAC)
- 3
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 3.477051460361613E-4
- Chromosome Counts in All Race (ExAC)
- 117410
- Allele Counts in All Race (ExAC)
- 9245
- Heterozygous Counts in All Race (ExAC)
- 8257
- Homozygous Counts in All Race (ExAC)
- 494
- Allele Frequency in All Race (ExAC)
- 0.07874116344434035
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