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
Links
Type Database ID Link
Gene MIM 605673 OMIM
HGNC 13862 HGNC
Ensembl ENSG00000137707 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv44034596 TogoVar
COSMIC
MONDO
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&gt;C and hsa-miR-423 rs6505162 C&gt;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&gt;C and hsa-miR-423 rs6505162 C&gt;A polymorphisms ar... BeFree 24260422 Detail
<0.001 Esophageal Neoplasms Hsa-miR-34b/c rs4938723 T&gt;C and hsa-miR-423 rs6505162 C&gt;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&gt;C and hsa-miR-423 rs6505162 C&gt;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&gt;C and hsa-miR-423 rs6505162 C&gt;A polymorphisms ar... BeFree 24260422 Detail
<0.001 Esophageal Neoplasms Hsa-miR-34b/c rs4938723 T&gt;C and hsa-miR-423 rs6505162 C&gt;A polymorphisms ar... BeFree 24260422 Detail
Annotation

Annotations

DescrptionSourceLinks
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&gt;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&gt;C and hsa-miR-423 rs6505162 C&gt;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&gt;C and hsa-miR-423 rs6505162 C&gt;A polymorphisms are associated with th... DisGeNET Detail
Hsa-miR-34b/c rs4938723 T&gt;C and hsa-miR-423 rs6505162 C&gt;A polymorphisms are associated with th... DisGeNET Detail
These findings indicated that functional polymorphisms hsa-miR-34b/c rs4938723 T&gt;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&gt;C and hsa-miR-423 rs6505162 C&gt;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&gt;C and hsa-miR-423 rs6505162 C&gt;A polymorphisms are associated with th... DisGeNET Detail
Hsa-miR-34b/c rs4938723 T&gt;C and hsa-miR-423 rs6505162 C&gt;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
Genome browser