chr5:1320021:G>A Detail (hg38) (CLPTM1L)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr5:1,320,136-1,320,136 View the variant detail on this assembly version. |
| hg38 | chr5:1,320,021-1,320,021 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_030782.4:c.1532+595C>T | |
| Ensemble | ENST00000320895.10:c.1532+595C>T | |
| ENST00000507807.3:c.1025+595C>T |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.124 | |
| 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 | nicotine dependence | Single-nucleotide polymorphisms rs421629 on 5p15.33 and rs1948, rs660652, rs8040... | BeFree | 22945651 | Detail |
| 0.015 | Carcinoma of lung | Single-nucleotide polymorphisms rs421629 on 5p15.33 and rs1948, rs660652, rs8040... | BeFree | 22945651 | Detail |
| 0.155 | Malignant neoplasm of lung | Single-nucleotide polymorphisms rs421629 on 5p15.33 and rs1948, rs660652, rs8040... | BeFree | 22945651 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Single-nucleotide polymorphisms rs421629 on 5p15.33 and rs1948, rs660652, rs8040868 and rs2036527 on... | DisGeNET | Detail |
| Single-nucleotide polymorphisms rs421629 on 5p15.33 and rs1948, rs660652, rs8040868 and rs2036527 on... | DisGeNET | Detail |
| Single-nucleotide polymorphisms rs421629 on 5p15.33 and rs1948, rs660652, rs8040868 and rs2036527 on... | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs421629 dbSNP
- Genome
- hg38
- Position
- chr5:1,320,021-1,320,021
- 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))
- rs421629
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.1245
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 2087
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
Genome browser