chr15:78865425:T>C Detail (hg19) (CHRNA5)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr15:78,865,425-78,865,425 |
| hg38 | chr15:78,573,083-78,573,083 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000745.3:c.106+7258T>C | |
| NM_001307945.1:c.106+7258T>C | ||
| Ensemble | ENST00000299565.9:c.106+7258T>C |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.887 | |
| 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 |
|---|---|---|---|---|---|
| 0.012 | Carcinoma of lung | Sliding window haplotype analysis within chromosome 15, evaluating 4722250 haplo... | BeFree | 26282330 | Detail |
| 0.060 | Malignant neoplasm of lung | Sliding window haplotype analysis within chromosome 15, evaluating 4722250 haplo... | BeFree | 26282330 | Detail |
| 0.327 | Lung Neoplasms | We found that four of the variants (rs3829787, rs3841324, rs588765 and rs3743073... | BeFree | 23011884 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Sliding window haplotype analysis within chromosome 15, evaluating 4722250 haplotypes and pair-wise ... | DisGeNET | Detail |
| Sliding window haplotype analysis within chromosome 15, evaluating 4722250 haplotypes and pair-wise ... | DisGeNET | Detail |
| We found that four of the variants (rs3829787, rs3841324, rs588765 and rs3743073) were associated wi... | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs588765 dbSNP
- Genome
- hg19
- Position
- chr15:78,865,425-78,865,425
- 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))
- rs588765
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.8875
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 14875
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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