chr5:131992409:A>C Detail (hg19)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr5:131,992,409-131,992,409 |
| hg38 | chr5:132,656,717-132,656,717 View the variant detail on this assembly version. |
HGVS
[No Data.]
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.303 | |
| 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 | |
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| <0.001 | Carcinoma of lung | CART analyses did not yield a tree structure for overall survival; separate CART... | BeFree | 25597281 | Detail |
| 0.044 | Malignant neoplasm of lung | CART analyses did not yield a tree structure for overall survival; separate CART... | BeFree | 25597281 | Detail |
| <0.001 | Carcinoma of lung | CART analyses did not yield a tree structure for overall survival; separate CART... | BeFree | 25597281 | Detail |
| 0.005 | Carcinoma of lung | CART analyses did not yield a tree structure for overall survival; separate CART... | BeFree | 25597281 | Detail |
| 0.008 | Malignant neoplasm of lung | CART analyses did not yield a tree structure for overall survival; separate CART... | BeFree | 25597281 | Detail |
| 0.005 | Malignant neoplasm of lung | CART analyses did not yield a tree structure for overall survival; separate CART... | BeFree | 25597281 | Detail |
| <0.001 | Carcinoma of lung | CART analyses did not yield a tree structure for overall survival; separate CART... | BeFree | 25597281 | Detail |
| 0.010 | Malignant neoplasm of lung | CART analyses did not yield a tree structure for overall survival; separate CART... | BeFree | 25597281 | Detail |
| <0.001 | Ichthyosis bullosa of Siemens | Additionally, three SNPs in immune-related genes (rs1464510-LPP, rs1881457-IL13,... | BeFree | 24041540 | Detail |
| <0.001 | irritable bowel syndrome | Additionally, three SNPs in immune-related genes (rs1464510-LPP, rs1881457-IL13,... | BeFree | 24041540 | Detail |
| 0.001 | malaria | Only rs1881457 located in the promoter region of IL13, which is in linkage diseq... | BeFree | 19840389 | Detail |
| 0.021 | asthma | IL13 SNPs rs1881457(-1512) and rs1800925(-1111) were associated with better FEV(... | BeFree | 19796199 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| CART analyses did not yield a tree structure for overall survival; separate CART tree structures wer... | DisGeNET | Detail |
| CART analyses did not yield a tree structure for overall survival; separate CART tree structures wer... | DisGeNET | Detail |
| CART analyses did not yield a tree structure for overall survival; separate CART tree structures wer... | DisGeNET | Detail |
| CART analyses did not yield a tree structure for overall survival; separate CART tree structures wer... | DisGeNET | Detail |
| CART analyses did not yield a tree structure for overall survival; separate CART tree structures wer... | DisGeNET | Detail |
| CART analyses did not yield a tree structure for overall survival; separate CART tree structures wer... | DisGeNET | Detail |
| CART analyses did not yield a tree structure for overall survival; separate CART tree structures wer... | DisGeNET | Detail |
| CART analyses did not yield a tree structure for overall survival; separate CART tree structures wer... | DisGeNET | Detail |
| Additionally, three SNPs in immune-related genes (rs1464510-LPP, rs1881457-IL13, rs2104286-IL2RA), o... | DisGeNET | Detail |
| Additionally, three SNPs in immune-related genes (rs1464510-LPP, rs1881457-IL13, rs2104286-IL2RA), o... | DisGeNET | Detail |
| Only rs1881457 located in the promoter region of IL13, which is in linkage disequilibrium with rs180... | DisGeNET | Detail |
| IL13 SNPs rs1881457(-1512) and rs1800925(-1111) were associated with better FEV(1) and FEV(1)/FVC in... | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs1881457 dbSNP
- Genome
- hg19
- Position
- chr5:131,992,409-131,992,409
- Variant Type
- snv
- Reference Allele
- A
- 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))
- rs1881457
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.3034
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 5084
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16758
Genome browser