chr5:132060785:C>T Detail (hg38) (IL3)

Information

Genome

Assembly Position
hg19 chr5:131,396,478-131,396,478 View the variant detail on this assembly version.
hg38 chr5:132,060,785-132,060,785

HGVS

Type Transcript Protein
RefSeq NM_000588.3:c.79C>T NP_000579.2:p.Pro27Ser
Ensemble ENST00000296870.3:c.79C>T ENST00000296870.3:p.Pro27Ser
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.559
ToMMo:0.556
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.518

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 147740 OMIM
HGNC 6011 HGNC
Ensembl ENSG00000164399 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv22770181 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 asthma In the initial sample, three SNPs, rs320995 in the cysteinyl leukotriene recepto... BeFree 18829683 Detail
0.010 asthma In the initial sample, three SNPs, rs320995 in the cysteinyl leukotriene recepto... BeFree 18829683 Detail
<0.001 Graves Disease The results suggested that the polymorphism of IL-3 (rs40401) and IL-5 (rs206981... BeFree 20332709 Detail
0.245 asthma In two large study populations of children, the German part of the International... BeFree 17362254 Detail
0.010 asthma In two large study populations of children, the German part of the International... BeFree 17362254 Detail
<0.001 Allergic disposition In two large study populations of children, the German part of the International... BeFree 17362254 Detail
<0.001 Thyroid associated opthalmopathies The results suggested that the polymorphism of IL-3 (rs40401) and IL-5 (rs206981... BeFree 20332709 Detail
0.016 asthma In two large study populations of children, the German part of the International... BeFree 17362254 Detail
0.006 Graves Disease The results suggested that the polymorphism of IL-3 (rs40401) and IL-5 (rs206981... BeFree 20332709 Detail
<0.001 Allergic disposition In two large study populations of children, the German part of the International... BeFree 17362254 Detail
0.002 Allergic disposition In two large study populations of children, the German part of the International... BeFree 17362254 Detail
0.010 asthma The strongest hypothetical biological mechanism was one wherein SNPrs40401 modul... BeFree 24293394 Detail
<0.001 Allergic rhinitis (disorder) No studies have investigated the relationship between IL3 single nucleotide poly... BeFree 23953855 Detail
0.010 asthma IL3 rs40401 polymorphism and interaction with smoking in risk of asthma in Japan... BeFree 24684517 Detail
Annotation

Annotations

DescrptionSourceLinks
In the initial sample, three SNPs, rs320995 in the cysteinyl leukotriene receptor 1 gene, rs1047266 ... DisGeNET Detail
In the initial sample, three SNPs, rs320995 in the cysteinyl leukotriene receptor 1 gene, rs1047266 ... DisGeNET Detail
The results suggested that the polymorphism of IL-3 (rs40401) and IL-5 (rs2069812) were associated w... DisGeNET Detail
In two large study populations of children, the German part of the International Study of Asthma and... DisGeNET Detail
In two large study populations of children, the German part of the International Study of Asthma and... DisGeNET Detail
In two large study populations of children, the German part of the International Study of Asthma and... DisGeNET Detail
The results suggested that the polymorphism of IL-3 (rs40401) and IL-5 (rs2069812) were associated w... DisGeNET Detail
In two large study populations of children, the German part of the International Study of Asthma and... DisGeNET Detail
The results suggested that the polymorphism of IL-3 (rs40401) and IL-5 (rs2069812) were associated w... DisGeNET Detail
In two large study populations of children, the German part of the International Study of Asthma and... DisGeNET Detail
In two large study populations of children, the German part of the International Study of Asthma and... DisGeNET Detail
The strongest hypothetical biological mechanism was one wherein SNPrs40401 modulates the role of IL3... DisGeNET Detail
No studies have investigated the relationship between IL3 single nucleotide polymorphism (SNP) rs404... DisGeNET Detail
IL3 rs40401 polymorphism and interaction with smoking in risk of asthma in Japanese women: the Kyush... 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
-
Genome
hg38
Position
chr5:132,060,785-132,060,785
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1210
Mean of sample read depth (HGVD)
152.05
Standard deviation of sample read depth (HGVD)
69.79
Number of reference allele (HGVD)
1068
Number of alternative allele (HGVD)
1352
Allele Frequency (HGVD)
0.5586776859504132
Gene Symbol (HGVD)
IL3
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))
rs40401
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.5558
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
9316
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8630
East Asian Allele Counts (ExAC)
4471
East Asian Heterozygous Counts (ExAC)
2171
East Asian Homozygous Counts (ExAC)
1150
East Asian Allele Frequency (ExAC)
0.5180764774044032
Chromosome Counts in All Race (ExAC)
121346
Allele Counts in All Race (ExAC)
35390
Heterozygous Counts in All Race (ExAC)
23660
Homozygous Counts in All Race (ExAC)
5865
Allele Frequency in All Race (ExAC)
0.29164537768035204
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