chr5:135230253:G>T Detail (hg19) (IL9)

Information

Genome

Assembly Position
hg19 chr5:135,230,253-135,230,253
hg38 chr5:135,894,564-135,894,564 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000590.1:c.184-413C>A
Ensemble ENST00000274520.2:c.184-413C>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.377
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 146931 OMIM
HGNC 6029 HGNC
Ensembl ENSG00000145839 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv22867660 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
<0.001 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
Annotation

Annotations

DescrptionSourceLinks
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

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs31564 dbSNP
Genome
hg19
Position
chr5:135,230,253-135,230,253
Variant Type
snv
Reference Allele
G
Alternative Allele
T
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))
rs31564
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.3766
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
6312
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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