chr16:27369609:G>A Detail (hg19) (IL4R)

Information

Genome

Assembly Position
hg19 chr16:27,369,609-27,369,609
hg38 chr16:27,358,288-27,358,288 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001257406.1:c.771-628G>A
NM_001257407.1:c.771-628G>A
NM_001257997.1:c.771-628G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[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 tgv114741741 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 cervical cancer squamous cell Two variants were inversely associated with SCC risk: IL4R rs3024656 (per-allele... BeFree 21071541 Detail
Annotation

Annotations

DescrptionSourceLinks
Two variants were inversely associated with SCC risk: IL4R rs3024656 (per-allele OR: 0.8; 95% CI: 0.... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs3024656 dbSNP
Genome
hg19
Position
chr16:27,369,609-27,369,609
Variant Type
snv
Reference Allele
G
Alternative Allele
A
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