chr3:159988493:T>G Detail (hg38)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr3:159,706,280-159,706,280 View the variant detail on this assembly version. |
| hg38 | chr3:159,988,493-159,988,493 |
HGVS
[No Data.]
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.054 | |
| 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 | Esophageal Neoplasms | We conducted a hospital based case-control study to evaluate the genetic effects... | BeFree | 23886125 | Detail |
| 0.005 | Esophageal Neoplasms | We conducted a hospital based case-control study to evaluate the genetic effects... | BeFree | 23886125 | Detail |
| <0.001 | esophageal carcinoma | We conducted a hospital based case-control study to evaluate the genetic effects... | BeFree | 23886125 | Detail |
| 0.008 | Malignant neoplasm of esophagus | We conducted a hospital based case-control study to evaluate the genetic effects... | BeFree | 23886125 | Detail |
| <0.001 | rheumatoid arthritis | No significant association was observed between rs2243115 in IL-12A and RA, due ... | BeFree | 25469793 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| We conducted a hospital based case-control study to evaluate the genetic effects of functional singl... | DisGeNET | Detail |
| We conducted a hospital based case-control study to evaluate the genetic effects of functional singl... | DisGeNET | Detail |
| We conducted a hospital based case-control study to evaluate the genetic effects of functional singl... | DisGeNET | Detail |
| We conducted a hospital based case-control study to evaluate the genetic effects of functional singl... | DisGeNET | Detail |
| No significant association was observed between rs2243115 in IL-12A and RA, due probably to the limi... | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs2243115 dbSNP
- Genome
- hg38
- Position
- chr3:159,988,493-159,988,493
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- G
- 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))
- rs2243115
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0539
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 904
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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