chr11:130750642:A>C Detail (hg19) (SNX19)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr11:130,750,642-130,750,642 |
| hg38 | chr11:130,880,747-130,880,747 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001301089.1:c.2633T>G | NP_001288018.1:p.Leu878Arg |
| NM_014758.2:c.2633T>G | NP_055573.2:p.Leu878Arg | |
| Ensemble | ENST00000530356.5:c.773T>G | ENST00000530356.5:p.Leu258Arg |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:0.732 |
| ToMMo:0.746 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.704 |
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 | arteriosclerosis | We considered five variants that were associated with coronary heart disease in ... | BeFree | 18073581 | Detail |
| 0.003 | atherosclerosis | We considered five variants that were associated with coronary heart disease in ... | BeFree | 18073581 | Detail |
| 0.002 | Coronary Arteriosclerosis | We considered five variants that were associated with coronary heart disease in ... | BeFree | 18073581 | Detail |
| <0.001 | arteriosclerosis | We considered five variants that were associated with coronary heart disease in ... | BeFree | 18073581 | Detail |
| 0.006 | atherosclerosis | We considered five variants that were associated with coronary heart disease in ... | BeFree | 18073581 | Detail |
| 0.007 | Coronary heart disease | We considered five variants that were associated with coronary heart disease in ... | BeFree | 18073581 | Detail |
| <0.001 | arteriosclerosis | We considered five variants that were associated with coronary heart disease in ... | BeFree | 18073581 | Detail |
| <0.001 | arteriosclerosis | We considered five variants that were associated with coronary heart disease in ... | BeFree | 18073581 | Detail |
| 0.010 | Coronary heart disease | We considered five variants that were associated with coronary heart disease in ... | BeFree | 18073581 | Detail |
| 0.007 | Coronary heart disease | We considered five variants that were associated with coronary heart disease in ... | BeFree | 18073581 | Detail |
| <0.001 | Coronary Arteriosclerosis | We considered five variants that were associated with coronary heart disease in ... | BeFree | 18073581 | Detail |
| <0.001 | Coronary Arteriosclerosis | We considered five variants that were associated with coronary heart disease in ... | BeFree | 18073581 | Detail |
| 0.025 | Coronary heart disease | We considered five variants that were associated with coronary heart disease in ... | BeFree | 18073581 | Detail |
| 0.003 | atherosclerosis | We considered five variants that were associated with coronary heart disease in ... | BeFree | 18073581 | Detail |
| <0.001 | Coronary Arteriosclerosis | We considered five variants that were associated with coronary heart disease in ... | BeFree | 18073581 | Detail |
| 0.003 | atherosclerosis | We considered five variants that were associated with coronary heart disease in ... | BeFree | 18073581 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| We considered five variants that were associated with coronary heart disease in two studies and conf... | DisGeNET | Detail |
| We considered five variants that were associated with coronary heart disease in two studies and conf... | DisGeNET | Detail |
| We considered five variants that were associated with coronary heart disease in two studies and conf... | DisGeNET | Detail |
| We considered five variants that were associated with coronary heart disease in two studies and conf... | DisGeNET | Detail |
| We considered five variants that were associated with coronary heart disease in two studies and conf... | DisGeNET | Detail |
| We considered five variants that were associated with coronary heart disease in two studies and conf... | DisGeNET | Detail |
| We considered five variants that were associated with coronary heart disease in two studies and conf... | DisGeNET | Detail |
| We considered five variants that were associated with coronary heart disease in two studies and conf... | DisGeNET | Detail |
| We considered five variants that were associated with coronary heart disease in two studies and conf... | DisGeNET | Detail |
| We considered five variants that were associated with coronary heart disease in two studies and conf... | DisGeNET | Detail |
| We considered five variants that were associated with coronary heart disease in two studies and conf... | DisGeNET | Detail |
| We considered five variants that were associated with coronary heart disease in two studies and conf... | DisGeNET | Detail |
| We considered five variants that were associated with coronary heart disease in two studies and conf... | DisGeNET | Detail |
| We considered five variants that were associated with coronary heart disease in two studies and conf... | DisGeNET | Detail |
| We considered five variants that were associated with coronary heart disease in two studies and conf... | DisGeNET | Detail |
| We considered five variants that were associated with coronary heart disease in two studies and conf... | 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
- chr11:130,750,642-130,750,642
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- C
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 713
- Mean of sample read depth (HGVD)
- 12.50
- Standard deviation of sample read depth (HGVD)
- 35.06
- Number of reference allele (HGVD)
- 382
- Number of alternative allele (HGVD)
- 1044
- Allele Frequency (HGVD)
- 0.7321178120617111
- Gene Symbol (HGVD)
- SNX19
- 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))
- rs2298566
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.7464
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 12509
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16758
- East Asian Chromosome Counts (ExAC)
- 8642
- East Asian Allele Counts (ExAC)
- 6085
- East Asian Heterozygous Counts (ExAC)
- 1779
- East Asian Homozygous Counts (ExAC)
- 2153
- East Asian Allele Frequency (ExAC)
- 0.7041194168016662
- Chromosome Counts in All Race (ExAC)
- 121360
- Allele Counts in All Race (ExAC)
- 94687
- Heterozygous Counts in All Race (ExAC)
- 20420
- Homozygous Counts in All Race (ExAC)
- 37133
- Allele Frequency in All Race (ExAC)
- 0.7802158866183256
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