chr5:135894824:G>A Detail (hg38) (IL9)

Information

Genome

Assembly Position
hg19 chr5:135,230,513-135,230,513 View the variant detail on this assembly version.
hg38 chr5:135,894,824-135,894,824

HGVS

Type Transcript Protein
RefSeq NM_000590.1:c.183+616C>T
Ensemble ENST00000274520.2:c.183+616C>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.079
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 tgv22867665 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 Childhood asthma IL9 polymorphisms (rs11741137, rs2069885, and rs1859430) showed evidence for int... BeFree 25913104 Detail
Annotation

Annotations

DescrptionSourceLinks
IL9 polymorphisms (rs11741137, rs2069885, and rs1859430) showed evidence for interaction with dust m... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs1859430 dbSNP
Genome
hg38
Position
chr5:135,894,824-135,894,824
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))
rs1859430
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0789
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1322
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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