chr11:111382565:T>C Detail (hg19) (BTG4)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr11:111,382,565-111,382,565 |
| hg38 | chr11:111,511,840-111,511,840 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_017589.3:c.-27+341A>G | |
| Ensemble | ENST00000689553.1:c.-111+341A>G | |
| ENST00000692032.1:c.-27+341A>G |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.307 | |
| 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 |
|---|---|---|---|---|---|
| 0.085 | colorectal carcinoma | We aimed to investigate the association between miR-34b/c rs4938723 and TP53 Arg... | BeFree | 23183747 | Detail |
| 0.005 | diabetes mellitus | The SNP rs4938723 and diabetes mellitus (DM) together were associated with an in... | BeFree | 24337371 | Detail |
| 0.160 | colorectal cancer | We aimed to investigate the association between miR-34b/c rs4938723 and TP53 Arg... | BeFree | 23183747 | Detail |
| 0.004 | Malignant neoplasm of breast | Two SNPs, miR-34b/34c (rs4938723, HR = 0.57 (95 % CI = 0.37-0.89, p value = 0.01... | BeFree | 23526039 | Detail |
| <0.001 | Squamous cell carcinoma of esophagus | These findings indicated that functional polymorphisms hsa-miR-34b/c rs4938723 T... | BeFree | 24260422 | Detail |
| <0.001 | Squamous cell carcinoma of esophagus | The present study provides the first evidence that pri-miR-124-1 rs531564 and pr... | BeFree | 24945256 | Detail |
| 0.075 | stomach carcinoma | Combined analysis showed that subjects carrying the miR-34b/c rs4938723 CT/CC an... | BeFree | 25658980 | Detail |
| <0.001 | esophageal carcinoma | Hsa-miR-34b/c rs4938723 T>C and hsa-miR-423 rs6505162 C>A polymorphisms ar... | BeFree | 24260422 | Detail |
| 0.004 | breast carcinoma | Two SNPs, miR-34b/34c (rs4938723, HR = 0.57 (95 % CI = 0.37-0.89, p value = 0.01... | BeFree | 23526039 | Detail |
| 0.003 | Malignant neoplasm of esophagus | Hsa-miR-34b/c rs4938723 T>C and hsa-miR-423 rs6505162 C>A polymorphisms ar... | BeFree | 24260422 | Detail |
| <0.001 | Esophageal Neoplasms | Hsa-miR-34b/c rs4938723 T>C and hsa-miR-423 rs6505162 C>A polymorphisms ar... | BeFree | 24260422 | Detail |
| 0.120 | Squamous cell carcinoma of esophagus | These findings indicated that functional polymorphisms hsa-miR-34b/c rs4938723 T... | BeFree | 24260422 | Detail |
| <0.001 | Squamous cell carcinoma of esophagus | The present study provides the first evidence that pri-miR-124-1 rs531564 and pr... | BeFree | 24945256 | Detail |
| <0.001 | Metabolic Diseases | These findings indicate that rs4938723 in the promoter region of pri-miR-34b/c a... | BeFree | 24337371 | Detail |
| <0.001 | Malignant neoplasm of esophagus | Hsa-miR-34b/c rs4938723 T>C and hsa-miR-423 rs6505162 C>A polymorphisms ar... | BeFree | 24260422 | Detail |
| 0.084 | Malignant neoplasm of stomach | Combined analysis showed that subjects carrying the miR-34b/c rs4938723 CT/CC an... | BeFree | 25658980 | Detail |
| <0.001 | esophageal carcinoma | Hsa-miR-34b/c rs4938723 T>C and hsa-miR-423 rs6505162 C>A polymorphisms ar... | BeFree | 24260422 | Detail |
| <0.001 | Esophageal Neoplasms | Hsa-miR-34b/c rs4938723 T>C and hsa-miR-423 rs6505162 C>A polymorphisms ar... | BeFree | 24260422 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| We aimed to investigate the association between miR-34b/c rs4938723 and TP53 Arg72Pro polymorphisms ... | DisGeNET | Detail |
| The SNP rs4938723 and diabetes mellitus (DM) together were associated with an increased CRC risk, bu... | DisGeNET | Detail |
| We aimed to investigate the association between miR-34b/c rs4938723 and TP53 Arg72Pro polymorphisms ... | DisGeNET | Detail |
| Two SNPs, miR-34b/34c (rs4938723, HR = 0.57 (95 % CI = 0.37-0.89, p value = 0.01)) and miR-206 (rs69... | DisGeNET | Detail |
| These findings indicated that functional polymorphisms hsa-miR-34b/c rs4938723 T>C and hsa-miR-42... | DisGeNET | Detail |
| The present study provides the first evidence that pri-miR-124-1 rs531564 and pri-miR-34 rs4938723 w... | DisGeNET | Detail |
| Combined analysis showed that subjects carrying the miR-34b/c rs4938723 CT/CC and TP53 CG/CC genotyp... | DisGeNET | Detail |
| Hsa-miR-34b/c rs4938723 T>C and hsa-miR-423 rs6505162 C>A polymorphisms are associated with th... | DisGeNET | Detail |
| Two SNPs, miR-34b/34c (rs4938723, HR = 0.57 (95 % CI = 0.37-0.89, p value = 0.01)) and miR-206 (rs69... | DisGeNET | Detail |
| Hsa-miR-34b/c rs4938723 T>C and hsa-miR-423 rs6505162 C>A polymorphisms are associated with th... | DisGeNET | Detail |
| Hsa-miR-34b/c rs4938723 T>C and hsa-miR-423 rs6505162 C>A polymorphisms are associated with th... | DisGeNET | Detail |
| These findings indicated that functional polymorphisms hsa-miR-34b/c rs4938723 T>C and hsa-miR-42... | DisGeNET | Detail |
| The present study provides the first evidence that pri-miR-124-1 rs531564 and pri-miR-34 rs4938723 w... | DisGeNET | Detail |
| These findings indicate that rs4938723 in the promoter region of pri-miR-34b/c and the SNP in TP53 c... | DisGeNET | Detail |
| Hsa-miR-34b/c rs4938723 T>C and hsa-miR-423 rs6505162 C>A polymorphisms are associated with th... | DisGeNET | Detail |
| Combined analysis showed that subjects carrying the miR-34b/c rs4938723 CT/CC and TP53 CG/CC genotyp... | DisGeNET | Detail |
| Hsa-miR-34b/c rs4938723 T>C and hsa-miR-423 rs6505162 C>A polymorphisms are associated with th... | DisGeNET | Detail |
| Hsa-miR-34b/c rs4938723 T>C and hsa-miR-423 rs6505162 C>A polymorphisms are associated with th... | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs4938723 dbSNP
- Genome
- hg19
- Position
- chr11:111,382,565-111,382,565
- 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))
- rs4938723
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.3073
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 5149
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16758
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