chr2:85581859:T>C Detail (hg38) (VAMP8)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr2:85,808,982-85,808,982 View the variant detail on this assembly version. |
| hg38 | chr2:85,581,859-85,581,859 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_003761.4:c.*143T>C | |
| Ensemble | ENST00000263864.10:c.*143T>C | |
| ENST00000409760.1:c.*279T>C |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.359 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:[No Data.] |
Prediction
ClinVar
| Clinical Significance |
Benign
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Benign
|
2020-11-02 | criteria provided, single submitter | not provided |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.010 | Coronary heart disease | Single nucleotide polymorphisms (SNPs) at the KIF6 (kinesin like protein 6, rs20... | BeFree | 22192511 | Detail |
| <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 | Coronary heart disease | Single nucleotide polymorphisms (SNPs) at the KIF6 (kinesin like protein 6, rs20... | BeFree | 22192511 | 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 |
|---|---|---|
| NM_003761.5(VAMP8):c.*143T>C AND not provided | ClinVar | Detail |
| Single nucleotide polymorphisms (SNPs) at the KIF6 (kinesin like protein 6, rs20455 or 719Arg), LPA ... | 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 |
| Single nucleotide polymorphisms (SNPs) at the KIF6 (kinesin like protein 6, rs20455 or 719Arg), LPA ... | 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
- -
- dbSNP
- rs1010 dbSNP
- Genome
- hg38
- Position
- chr2:85,581,859-85,581,859
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
- 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))
- rs1010
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.3585
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 6008
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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