chr1:3507824:G>A Detail (hg38) (MEGF6)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr1:3,424,388-3,424,388 View the variant detail on this assembly version. |
| hg38 | chr1:3,507,824-3,507,824 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001409.3:c.1760C>T | NP_001400.3:p.Pro587Leu |
| Ensemble | ENST00000294599.8:c.1445C>T | ENST00000294599.8:p.Pro482Leu |
| ENST00000356575.9:c.1760C>T | ENST00000356575.9:p.Pro587Leu |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:0.062 |
| ToMMo:0.062 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.051 |
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 | liver carcinoma | Seven polymorphisms of caspase 9 (rs2308941)C-->T and DOK2(rs2242241) T-->... | BeFree | 16109524 | Detail |
| <0.001 | liver carcinoma | Seven polymorphisms of caspase 9 (rs2308941)C-->T and DOK2(rs2242241) T-->... | BeFree | 16109524 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Seven polymorphisms of caspase 9 (rs2308941)C-->T and DOK2(rs2242241) T-->G, 6 of polymorphism... | DisGeNET | Detail |
| Seven polymorphisms of caspase 9 (rs2308941)C-->T and DOK2(rs2242241) T-->G, 6 of polymorphism... | 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
- chr1:3,507,824-3,507,824
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 836
- Mean of sample read depth (HGVD)
- 13.95
- Standard deviation of sample read depth (HGVD)
- 18.20
- Number of reference allele (HGVD)
- 1568
- Number of alternative allele (HGVD)
- 103
- Allele Frequency (HGVD)
- 0.061639736684619986
- Gene Symbol (HGVD)
- MEGF6
- 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))
- rs947345
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0625
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 1047
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8584
- East Asian Allele Counts (ExAC)
- 435
- East Asian Heterozygous Counts (ExAC)
- 421
- East Asian Homozygous Counts (ExAC)
- 7
- East Asian Allele Frequency (ExAC)
- 0.05067567567567568
- Chromosome Counts in All Race (ExAC)
- 119168
- Allele Counts in All Race (ExAC)
- 5682
- Heterozygous Counts in All Race (ExAC)
- 5346
- Homozygous Counts in All Race (ExAC)
- 168
- Allele Frequency in All Race (ExAC)
- 0.047680585392051555
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