chr16:27362859:T>C Detail (hg38) (IL4R)

Information

Genome

Assembly Position
hg19 chr16:27,374,180-27,374,180 View the variant detail on this assembly version.
hg38 chr16:27,362,859-27,362,859

HGVS

Type Transcript Protein
RefSeq NM_000418.3:c.1507T>C NP_000409.1:p.Ser503Pro
NM_001257406.1:c.1507T>C NP_001244335.1:p.Ser503Pro
NM_001257407.1:c.1507T>C NP_001244336.1:p.Ser503Pro
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.057
ToMMo:0.061
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.078

Prediction

ClinVar

Clinical Significance protective
Review star
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 tgv55150031 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
protective 2013-10-07 no assertion criteria provided Atopy, resistance to germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.002 Glioma Our meta-analysis suggests that the polymorphism of IL-4Rα rs1801275 but not IL-... BeFree 23979976 Detail
<0.001 cardiac arrest The previously observed association with the IL4R 503 S/P variant and the novel ... BeFree 17600229 Detail
<0.001 cardiac arrest The previously observed association with the IL4R 503 S/P variant and the novel ... BeFree 17600229 Detail
<0.001 Huntington disease We searched for an association between the interleukin 4 receptor gene (IL4R) rs... BeFree 23462527 Detail
0.008 Cerebrovascular accident The previously observed association with the IL4R 503 S/P variant and the novel ... BeFree 17600229 Detail
0.005 coronary artery disease NA GAD Detail
0.007 Hodgkin Disease We searched for an association between the interleukin 4 receptor gene (IL4R) rs... BeFree 23462527 Detail
<0.001 Huntington disease We searched for an association between the interleukin 4 receptor gene (IL4R) rs... BeFree 23462527 Detail
0.130 Hodgkin Disease We searched for an association between the interleukin 4 receptor gene (IL4R) rs... BeFree 23462527 Detail
0.010 Cerebrovascular accident The previously observed association with the IL4R 503 S/P variant and the novel ... BeFree 17600229 Detail
0.001 malaria A GTGTGTC haplotype consisting of IL-1A (rs17561), IL-4 (rs2243250), TNF (rs1800... BeFree 26448013 Detail
0.005 malaria A GTGTGTC haplotype consisting of IL-1A (rs17561), IL-4 (rs2243250), TNF (rs1800... BeFree 26448013 Detail
0.157 malaria A GTGTGTC haplotype consisting of IL-1A (rs17561), IL-4 (rs2243250), TNF (rs1800... BeFree 26448013 Detail
0.010 malaria A GTGTGTC haplotype consisting of IL-1A (rs17561), IL-4 (rs2243250), TNF (rs1800... BeFree 26448013 Detail
<0.001 malaria A GTGTGTC haplotype consisting of IL-1A (rs17561), IL-4 (rs2243250), TNF (rs1800... BeFree 26448013 Detail
0.139 malaria A GTGTGTC haplotype consisting of IL-1A (rs17561), IL-4 (rs2243250), TNF (rs1800... BeFree 26448013 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000418.4(IL4R):c.1507T>C (p.Ser503Pro) AND Atopy, resistance to ClinVar Detail
Our meta-analysis suggests that the polymorphism of IL-4Rα rs1801275 but not IL-4Rα rs1805015 plays ... DisGeNET Detail
The previously observed association with the IL4R 503 S/P variant and the novel association with the... DisGeNET Detail
The previously observed association with the IL4R 503 S/P variant and the novel association with the... DisGeNET Detail
We searched for an association between the interleukin 4 receptor gene (IL4R) rs1805015 and interleu... DisGeNET Detail
The previously observed association with the IL4R 503 S/P variant and the novel association with the... DisGeNET Detail
NA DisGeNET Detail
We searched for an association between the interleukin 4 receptor gene (IL4R) rs1805015 and interleu... DisGeNET Detail
We searched for an association between the interleukin 4 receptor gene (IL4R) rs1805015 and interleu... DisGeNET Detail
We searched for an association between the interleukin 4 receptor gene (IL4R) rs1805015 and interleu... DisGeNET Detail
The previously observed association with the IL4R 503 S/P variant and the novel association with the... DisGeNET Detail
A GTGTGTC haplotype consisting of IL-1A (rs17561), IL-4 (rs2243250), TNF (rs1800750), IL-4R (rs18050... DisGeNET Detail
A GTGTGTC haplotype consisting of IL-1A (rs17561), IL-4 (rs2243250), TNF (rs1800750), IL-4R (rs18050... DisGeNET Detail
A GTGTGTC haplotype consisting of IL-1A (rs17561), IL-4 (rs2243250), TNF (rs1800750), IL-4R (rs18050... DisGeNET Detail
A GTGTGTC haplotype consisting of IL-1A (rs17561), IL-4 (rs2243250), TNF (rs1800750), IL-4R (rs18050... DisGeNET Detail
A GTGTGTC haplotype consisting of IL-1A (rs17561), IL-4 (rs2243250), TNF (rs1800750), IL-4R (rs18050... DisGeNET Detail
A GTGTGTC haplotype consisting of IL-1A (rs17561), IL-4 (rs2243250), TNF (rs1800750), IL-4R (rs18050... 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
-
dbSNP
rs1805015 dbSNP
Genome
hg38
Position
chr16:27,362,859-27,362,859
Variant Type
snv
Reference Allele
T
Alternative Allele
C
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1207
Mean of sample read depth (HGVD)
143.04
Standard deviation of sample read depth (HGVD)
71.68
Number of reference allele (HGVD)
2276
Number of alternative allele (HGVD)
138
Allele Frequency (HGVD)
0.05716652858326429
Gene Symbol (HGVD)
IL4R
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))
rs1805015
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0609
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1021
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8618
East Asian Allele Counts (ExAC)
668
East Asian Heterozygous Counts (ExAC)
630
East Asian Homozygous Counts (ExAC)
19
East Asian Allele Frequency (ExAC)
0.07751218380134602
Chromosome Counts in All Race (ExAC)
120988
Allele Counts in All Race (ExAC)
19820
Heterozygous Counts in All Race (ExAC)
15864
Homozygous Counts in All Race (ExAC)
1978
Allele Frequency in All Race (ExAC)
0.16381789929579793
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