chr4:169677486:G>A Detail (hg19) (PALLD)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr4:169,677,486-169,677,486 |
| hg38 | chr4:168,756,335-168,756,335 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001166108.1:c.1964+44412G>A | |
| NM_016081.3:c.1964+44412G>A | ||
| NM_001166109.1:c.818+44412G>A |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.086 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:[No Data.] |
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 |
| 0.007 | Coronary heart disease | A single-nucleotide polymorphism (SNP) in the palladin gene (PALLD, rs7439293) h... | BeFree | 21054356 | 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 |
| A single-nucleotide polymorphism (SNP) in the palladin gene (PALLD, rs7439293) has recently been rep... | 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
- rs7439293 dbSNP
- Genome
- hg19
- Position
- chr4:169,677,486-169,677,486
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- 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))
- rs7439293
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0862
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 1444
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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