chr3:108147728:T>C Detail (hg19) (MYH15)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr3:108,147,728-108,147,728 |
| hg38 | chr3:108,428,881-108,428,881 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_014981.1:c.3313A>G | NP_055796.1:p.Thr1105Ala |
| Ensemble | ENST00000273353.5:c.3313A>G | ENST00000273353.5:p.Thr1105Ala |
| ENST00000689784.1:c.2332A>G | ENST00000689784.1:p.Thr778Ala |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:<0.001 |
| ToMMo:<0.001 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.007 |
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 |
| 0.005 | Cerebrovascular accident | The odds ratios for noncardioembolic stroke were 1.31 (90% CI 1.07-1.60) for rs3... | BeFree | 19752551 | 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 |
| The odds ratios for noncardioembolic stroke were 1.31 (90% CI 1.07-1.60) for rs3900940 in MYH15, 1.2... | 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
- chr3:108,147,728-108,147,728
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1210
- Mean of sample read depth (HGVD)
- 92.29
- Standard deviation of sample read depth (HGVD)
- 45.09
- Number of reference allele (HGVD)
- 2419
- Number of alternative allele (HGVD)
- 1
- Allele Frequency (HGVD)
- 4.1322314049586776E-4
- Gene Symbol (HGVD)
- MYH15
- 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))
- rs3900940
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0004
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 6
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8606
- East Asian Allele Counts (ExAC)
- 58
- East Asian Heterozygous Counts (ExAC)
- 58
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 0.006739484080873809
- Chromosome Counts in All Race (ExAC)
- 119444
- Allele Counts in All Race (ExAC)
- 28729
- Heterozygous Counts in All Race (ExAC)
- 20735
- Homozygous Counts in All Race (ExAC)
- 3997
- Allele Frequency in All Race (ExAC)
- 0.2405227554335086
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