chr5:132009710:C>T Detail (hg19) (IL4)

Information

Genome

Assembly Position
hg19 chr5:132,009,710-132,009,710
hg38 chr5:132,674,018-132,674,018 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000589.3:c.-33C>T
Ensemble ENST00000231449.7:c.-33C>T
ENST00000622422.1:c.-33C>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.665
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.784

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 147780 OMIM
HGNC 6014 HGNC
Ensembl ENSG00000113520 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv22786958 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
0.008 Hepatitis B, Chronic IL-4 -590C/T and -33C/T polymorphisms were examined in 154 patients with HBV-rel... BeFree 25295591 Detail
0.355 asthma A total of 214 atopic patients (108 with asthma and 106 with allergic rhinitis) ... BeFree 23654077 Detail
<0.001 Fibroid Tumor An association between polymorphisms of the IL4 gene promotor at positions -590 ... BeFree 21138652 Detail
0.355 asthma The -33C/T polymorphism in the interleukin 4 gene is associated with asthma risk... BeFree 24834774 Detail
0.006 liver cirrhosis IL-4 -590C/T and -33C/T polymorphisms were examined in 154 patients with HBV-rel... BeFree 25295591 Detail
<0.001 Ischemic stroke Interleukin-4 (IL4) polymorphisms (rs2243250, rs2070874) were analysed in Korean... BeFree 21501388 Detail
0.007 Tuberculosis, Pulmonary Using multiple corrections, significant overall risk against PTB was observed at... BeFree 22771610 Detail
Annotation

Annotations

DescrptionSourceLinks
IL-4 -590C/T and -33C/T polymorphisms were examined in 154 patients with HBV-related HCC, 62 patient... DisGeNET Detail
A total of 214 atopic patients (108 with asthma and 106 with allergic rhinitis) and 120 healthy cont... DisGeNET Detail
An association between polymorphisms of the IL4 gene promotor at positions -590 C/T and -33 C/T, and... DisGeNET Detail
The -33C/T polymorphism in the interleukin 4 gene is associated with asthma risk: a meta-analysis. DisGeNET Detail
IL-4 -590C/T and -33C/T polymorphisms were examined in 154 patients with HBV-related HCC, 62 patient... DisGeNET Detail
Interleukin-4 (IL4) polymorphisms (rs2243250, rs2070874) were analysed in Korean patients with ischa... DisGeNET Detail
Using multiple corrections, significant overall risk against PTB was observed at seven loci which in... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs2070874 dbSNP
Genome
hg19
Position
chr5:132,009,710-132,009,710
Variant Type
snv
Reference Allele
C
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))
rs2070874
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.6654
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
11152
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8644
East Asian Allele Counts (ExAC)
6779
East Asian Heterozygous Counts (ExAC)
1491
East Asian Homozygous Counts (ExAC)
2644
East Asian Allele Frequency (ExAC)
0.784243405830634
Chromosome Counts in All Race (ExAC)
121192
Allele Counts in All Race (ExAC)
32354
Heterozygous Counts in All Race (ExAC)
19422
Homozygous Counts in All Race (ExAC)
6466
Allele Frequency in All Race (ExAC)
0.2669648161594825
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