chr5:132012725:T>G Detail (hg19) (IL4)

Information

Genome

Assembly Position
hg19 chr5:132,012,725-132,012,725
hg38 chr5:132,677,033-132,677,033 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000589.3:c.183+2527T>G
NM_172348.2:c.136-2681T>G
Ensemble ENST00000231449.7:c.183+2527T>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.259
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 tgv22787097 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
0.355 asthma A total of 214 atopic patients (108 with asthma and 106 with allergic rhinitis) ... BeFree 23654077 Detail
Annotation

Annotations

DescrptionSourceLinks
A total of 214 atopic patients (108 with asthma and 106 with allergic rhinitis) and 120 healthy cont... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs2227284 dbSNP
Genome
hg19
Position
chr5:132,012,725-132,012,725
Variant Type
snv
Reference Allele
T
Alternative Allele
G
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))
rs2227284
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.2595
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
4349
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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