chr16:27356651:G>A Detail (hg38) (IL4R)

Information

Genome

Assembly Position
hg19 chr16:27,367,972-27,367,972 View the variant detail on this assembly version.
hg38 chr16:27,356,651-27,356,651

HGVS

Type Transcript Protein
RefSeq NM_000418.3:c.770+744G>A
NM_001257406.1:c.770+744G>A
NM_001257407.1:c.770+744G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.929
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 147781 OMIM
HGNC 6015 HGNC
Ensembl ENSG00000077238 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv55149680 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 Hay fever Of 60 tagging single-nucleotide polymorphisms covering eight genes (CSF2, IL3, I... BeFree 21071541 Detail
0.008 Hay fever Of 60 tagging single-nucleotide polymorphisms covering eight genes (CSF2, IL3, I... BeFree 21071541 Detail
0.003 Hay fever Of 60 tagging single-nucleotide polymorphisms covering eight genes (CSF2, IL3, I... BeFree 21071541 Detail
Annotation

Annotations

DescrptionSourceLinks
Of 60 tagging single-nucleotide polymorphisms covering eight genes (CSF2, IL3, IL4, IL13, CSF2RB, IL... DisGeNET Detail
Of 60 tagging single-nucleotide polymorphisms covering eight genes (CSF2, IL3, IL4, IL13, CSF2RB, IL... DisGeNET Detail
Of 60 tagging single-nucleotide polymorphisms covering eight genes (CSF2, IL3, IL4, IL13, CSF2RB, IL... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs3024647 dbSNP
Genome
hg38
Position
chr16:27,356,651-27,356,651
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))
rs3024647
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.9286
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
15564
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
Genome browser