chr16:27356203:A>G Detail (hg19) (IL4R)

Information

Genome

Assembly Position
hg19 chr16:27,356,203-27,356,203
hg38 chr16:27,344,882-27,344,882 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001257406.1:c.223A>G NP_001244335.1:p.Ile75Val
NM_001257407.1:c.223A>G NP_001244336.1:p.Ile75Val
NM_001257997.1:c.223A>G NP_001244926.1:p.Ile75Val
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.602
ToMMo:0.620
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.514

Prediction

ClinVar

Clinical Significance Benign
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 tgv55149243 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2005-10-01 no assertion criteria provided Atopy, resistance to germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.055 asthma To investigate associations between total serum immunoglobulin E (IgE) levels an... BeFree 22376040 Detail
0.038 asthma To investigate associations between total serum immunoglobulin E (IgE) levels an... BeFree 22376040 Detail
0.266 asthma To investigate associations between total serum immunoglobulin E (IgE) levels an... BeFree 22376040 Detail
0.006 Rheumatoid Nodule We found that IL4R SNPs, rs1801275 and rs1805010, are associated with rheumatoid... BeFree 20444266 Detail
0.055 asthma To investigate whether the single-nucleotide polymorphisms (SNPs) Ile75Val and G... BeFree 22533235 Detail
0.014 rheumatoid arthritis Increased Th17 cell frequency and poor clinical outcome in rheumatoid arthritis ... BeFree 24782180 Detail
0.005 diffuse large B-cell lymphoma [Favorable impact of the interleukin-4 receptor allelic variant I75 on the survi... GAD 19515749 Detail
0.033 rheumatoid arthritis The data indicate that the rs1805010 minor allele contributes to increased Th17 ... BeFree 24782180 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000418.4(IL4R):c.223A>G (p.Ile75Val) AND Atopy, resistance to ClinVar Detail
To investigate associations between total serum immunoglobulin E (IgE) levels and single nucleotide ... DisGeNET Detail
To investigate associations between total serum immunoglobulin E (IgE) levels and single nucleotide ... DisGeNET Detail
To investigate associations between total serum immunoglobulin E (IgE) levels and single nucleotide ... DisGeNET Detail
We found that IL4R SNPs, rs1801275 and rs1805010, are associated with rheumatoid nodules in autoanti... DisGeNET Detail
To investigate whether the single-nucleotide polymorphisms (SNPs) Ile75Val and Gln576Arg in the IL4R... DisGeNET Detail
Increased Th17 cell frequency and poor clinical outcome in rheumatoid arthritis are associated with ... DisGeNET Detail
[Favorable impact of the interleukin-4 receptor allelic variant I75 on the survival of diffuse large... DisGeNET Detail
The data indicate that the rs1805010 minor allele contributes to increased Th17 cell frequency, enha... 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
rs1805010 dbSNP
Genome
hg19
Position
chr16:27,356,203-27,356,203
Variant Type
snv
Reference Allele
A
Alternative Allele
G
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1206
Mean of sample read depth (HGVD)
56.91
Standard deviation of sample read depth (HGVD)
26.07
Number of reference allele (HGVD)
961
Number of alternative allele (HGVD)
1451
Allele Frequency (HGVD)
0.601575456053068
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))
rs1805010
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.6196
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
10384
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8620
East Asian Allele Counts (ExAC)
4429
East Asian Heterozygous Counts (ExAC)
2141
East Asian Homozygous Counts (ExAC)
1144
East Asian Allele Frequency (ExAC)
0.5138051044083527
Chromosome Counts in All Race (ExAC)
121074
Allele Counts in All Race (ExAC)
54631
Heterozygous Counts in All Race (ExAC)
29803
Homozygous Counts in All Race (ExAC)
12414
Allele Frequency in All Race (ExAC)
0.45121991509324877
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