chr5:132014832:G>A Detail (hg19) (IL4)

Information

Genome

Assembly Position
hg19 chr5:132,014,832-132,014,832
hg38 chr5:132,679,140-132,679,140 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000589.3:c.184-574G>A
NM_172348.2:c.136-574G>A
Ensemble ENST00000231449.7:c.184-574G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.664
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 147780 OMIM
HGNC 6014 HGNC
Ensembl ENSG00000113520 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv22787151 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
0.020 tuberculosis rs2243268 and rs2243274 of Interleukin-4 (IL-4) gene are associated with reduced... BeFree 24518693 Detail
<0.001 Tuberculosis, extrapulmonary In conclusion, rs2243268-A and rs2243274-G of the IL-4 gene were found to confer... BeFree 24518693 Detail
0.009 Fatigue Controlling for genomic estimates of ancestry and self-reported race/ethnicity a... BeFree 24632226 Detail
<0.001 Fatigue Controlling for genomic estimates of ancestry and self-reported race/ethnicity a... BeFree 24632226 Detail
0.002 Fatigue Controlling for genomic estimates of ancestry and self-reported race/ethnicity a... BeFree 24632226 Detail
Annotation

Annotations

DescrptionSourceLinks
rs2243268 and rs2243274 of Interleukin-4 (IL-4) gene are associated with reduced risk for extrapulmo... DisGeNET Detail
In conclusion, rs2243268-A and rs2243274-G of the IL-4 gene were found to confer resistance to EPTB ... DisGeNET Detail
Controlling for genomic estimates of ancestry and self-reported race/ethnicity and gender, the high ... DisGeNET Detail
Controlling for genomic estimates of ancestry and self-reported race/ethnicity and gender, the high ... DisGeNET Detail
Controlling for genomic estimates of ancestry and self-reported race/ethnicity and gender, the high ... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs2243274 dbSNP
Genome
hg19
Position
chr5:132,014,832-132,014,832
Variant Type
snv
Reference Allele
G
Alternative Allele
A
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))
rs2243274
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.6643
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
11134
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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