chr1:154454494:A>C Detail (hg38) (IL6R)

Information

Genome

Assembly Position
hg19 chr1:154,426,970-154,426,970 View the variant detail on this assembly version.
hg38 chr1:154,454,494-154,454,494

HGVS

Type Transcript Protein
RefSeq NM_181359.2:c.1066+4514A>C
NM_000565.3:c.1073A>C NP_000556.1:p.Asp358Ala
Ensemble ENST00000344086.8:c.1066+4514A>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.405
ToMMo:0.380
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.394

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 147880 OMIM
HGNC 6019 HGNC
Ensembl ENSG00000160712 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv3296819 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
association 2007-04-01 no assertion criteria provided Soluble interleukin-6 receptor, serum level of, quantitative trait locus germline Detail
association 2007-04-01 no assertion criteria provided Interleukin 6, serum level of, quantitative trait locus germline Detail
Benign 2024-02-01 criteria provided, single submitter not provided germline Detail
Benign 2024-01-24 criteria provided, single submitter not specified germline Detail
Benign 2019-10-17 criteria provided, single submitter IL6R-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.248 rheumatoid arthritis Interleukin-6-receptor polymorphisms rs12083537, rs2228145, and rs4329505 as pre... BeFree 24978393 Detail
<0.001 Fatigue The associations between fatigue and SNPs in inflammation-related genes; IL1β (r... BeFree 21496483 Detail
<0.001 carpal tunnel syndrome One hundred and three self-reported Coloured participants, with a history of car... BeFree 25813875 Detail
<0.001 carpal tunnel syndrome One hundred and three self-reported Coloured participants, with a history of car... BeFree 25813875 Detail
<0.001 carpal tunnel syndrome One hundred and three self-reported Coloured participants, with a history of car... BeFree 25813875 Detail
0.205 rheumatoid arthritis Lack of association of IL6R rs2228145 and IL6ST/gp130 rs2228044 gene polymorphis... BeFree 21981268 Detail
0.248 rheumatoid arthritis Lack of association of IL6R rs2228145 and IL6ST/gp130 rs2228044 gene polymorphis... BeFree 21981268 Detail
0.021 Aortic Aneurysm, Abdominal Although a common, non-synonymous variant in the IL-6 receptor gene (IL6R Asp358... BeFree 23593036 Detail
<0.001 aortic valve stenosis Interleukin-6 receptor Asp358Ala gene polymorphism is associated with plasma C-r... BeFree 24717336 Detail
0.003 coronary artery disease Interleukin-6 receptor (IL-6R) gene Asp358Ala (A&gt;C, rs2228145) polymorphism h... BeFree 24717336 Detail
0.065 Coronary heart disease Although a common, non-synonymous variant in the IL-6 receptor gene (IL6R Asp358... BeFree 23593036 Detail
0.127 Coronary heart disease Although a common, non-synonymous variant in the IL-6 receptor gene (IL6R Asp358... BeFree 23593036 Detail
<0.001 arteriosclerosis Since the pathogenesis of AS and atherosclerosis shares several similarities, we... BeFree 24717336 Detail
0.213 rheumatoid arthritis Although a common, non-synonymous variant in the IL-6 receptor gene (IL6R Asp358... BeFree 23593036 Detail
0.131 asthma Although a common, non-synonymous variant in the IL-6 receptor gene (IL6R Asp358... BeFree 23593036 Detail
0.131 asthma The IL6R variation Asp(358)Ala is a potential modifier of lung function in subje... BeFree 22554704 Detail
0.167 coronary artery disease Interleukin-6 receptor (IL-6R) gene Asp358Ala (A&gt;C, rs2228145) polymorphism h... BeFree 24717336 Detail
<0.001 atherosclerosis Since the pathogenesis of AS and atherosclerosis shares several similarities, we... BeFree 24717336 Detail
0.248 rheumatoid arthritis Although a common, non-synonymous variant in the IL-6 receptor gene (IL6R Asp358... BeFree 23593036 Detail
0.014 obesity The Asp358Ala and CA-repeat polymorphisms in the IL-6R gene are associated with ... BeFree 16817825 Detail
<0.001 aortic valve stenosis Interleukin-6 receptor Asp358Ala gene polymorphism is associated with plasma C-r... BeFree 24717336 Detail
0.011 Diabetes IL6R genetic variations, especially SNP7 (rs8192284, Asp358Ala), were significan... BeFree 17898129 Detail
<0.001 aortic valve disease 2 Interleukin-6 receptor Asp358Ala gene polymorphism is associated with plasma C-r... BeFree 24717336 Detail
0.001 Metabolic syndrome X Influence of the 48867A&gt;C (Asp358Ala) IL6R polymorphism on response to a life... BeFree 23479153 Detail
<0.001 Diabetes IL6R genetic variations, especially SNP7 (rs8192284, Asp358Ala), were significan... BeFree 17898129 Detail
0.038 asthma Although a common, non-synonymous variant in the IL-6 receptor gene (IL6R Asp358... BeFree 23593036 Detail
0.038 diabetes mellitus IL6R genetic variations, especially SNP7 (rs8192284, Asp358Ala), were significan... BeFree 17898129 Detail
0.122 Fibrinogen Adverse Event [A genome-wide survey of the human genome identifies novel loci related to commo... GAD 20031577 Detail
<0.001 aortic valve disease 2 Interleukin-6 receptor Asp358Ala gene polymorphism is associated with plasma C-r... BeFree 24717336 Detail
0.248 rheumatoid arthritis Genetics of rheumatoid arthritis contributes to biology and drug discovery. GWASCAT 24390342 Detail
0.014 obesity An Asp358Ala polymorphism of the IL6R has been reported to associate with obesit... BeFree 15561970 Detail
0.011 Diabetes Mellitus, Non-Insulin-Dependent Previous reports have shown that the Asp358Ala (T/G) polymorphism of the interle... BeFree 17570254 Detail
0.014 obesity We performed the current study to investigate the relationship between the IL6R ... BeFree 17570254 Detail
<0.001 Aortic Aneurysm, Abdominal Although a common, non-synonymous variant in the IL-6 receptor gene (IL6R Asp358... BeFree 23593036 Detail
0.003 diabetes mellitus IL6R genetic variations, especially SNP7 (rs8192284, Asp358Ala), were significan... BeFree 17898129 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000565.4(IL6R):c.1073A>C (p.Asp358Ala) AND Soluble interleukin-6 receptor, serum level of, quanti... ClinVar Detail
NM_000565.4(IL6R):c.1073A>C (p.Asp358Ala) AND Interleukin 6, serum level of, quantitative trait locu... ClinVar Detail
NM_000565.4(IL6R):c.1073A>C (p.Asp358Ala) AND not provided ClinVar Detail
NM_000565.4(IL6R):c.1073A>C (p.Asp358Ala) AND not specified ClinVar Detail
NM_000565.4(IL6R):c.1073A>C (p.Asp358Ala) AND IL6R-related disorder ClinVar Detail
Interleukin-6-receptor polymorphisms rs12083537, rs2228145, and rs4329505 as predictors of response ... DisGeNET Detail
The associations between fatigue and SNPs in inflammation-related genes; IL1β (rs16944), IL6 (rs1800... DisGeNET Detail
One hundred and three self-reported Coloured participants, with a history of carpal tunnel release s... DisGeNET Detail
One hundred and three self-reported Coloured participants, with a history of carpal tunnel release s... DisGeNET Detail
One hundred and three self-reported Coloured participants, with a history of carpal tunnel release s... DisGeNET Detail
Lack of association of IL6R rs2228145 and IL6ST/gp130 rs2228044 gene polymorphisms with cardiovascul... DisGeNET Detail
Lack of association of IL6R rs2228145 and IL6ST/gp130 rs2228044 gene polymorphisms with cardiovascul... DisGeNET Detail
Although a common, non-synonymous variant in the IL-6 receptor gene (IL6R Asp358Ala; rs2228145 A&gt;... DisGeNET Detail
Interleukin-6 receptor Asp358Ala gene polymorphism is associated with plasma C-reactive protein leve... DisGeNET Detail
Interleukin-6 receptor (IL-6R) gene Asp358Ala (A&gt;C, rs2228145) polymorphism has been associated w... DisGeNET Detail
Although a common, non-synonymous variant in the IL-6 receptor gene (IL6R Asp358Ala; rs2228145 A&gt;... DisGeNET Detail
Although a common, non-synonymous variant in the IL-6 receptor gene (IL6R Asp358Ala; rs2228145 A&gt;... DisGeNET Detail
Since the pathogenesis of AS and atherosclerosis shares several similarities, we tested the hypothes... DisGeNET Detail
Although a common, non-synonymous variant in the IL-6 receptor gene (IL6R Asp358Ala; rs2228145 A&gt;... DisGeNET Detail
Although a common, non-synonymous variant in the IL-6 receptor gene (IL6R Asp358Ala; rs2228145 A&gt;... DisGeNET Detail
The IL6R variation Asp(358)Ala is a potential modifier of lung function in subjects with asthma. DisGeNET Detail
Interleukin-6 receptor (IL-6R) gene Asp358Ala (A&gt;C, rs2228145) polymorphism has been associated w... DisGeNET Detail
Since the pathogenesis of AS and atherosclerosis shares several similarities, we tested the hypothes... DisGeNET Detail
Although a common, non-synonymous variant in the IL-6 receptor gene (IL6R Asp358Ala; rs2228145 A&gt;... DisGeNET Detail
The Asp358Ala and CA-repeat polymorphisms in the IL-6R gene are associated with obesity and characte... DisGeNET Detail
Interleukin-6 receptor Asp358Ala gene polymorphism is associated with plasma C-reactive protein leve... DisGeNET Detail
IL6R genetic variations, especially SNP7 (rs8192284, Asp358Ala), were significantly associated with ... DisGeNET Detail
Interleukin-6 receptor Asp358Ala gene polymorphism is associated with plasma C-reactive protein leve... DisGeNET Detail
Influence of the 48867A&gt;C (Asp358Ala) IL6R polymorphism on response to a lifestyle modification i... DisGeNET Detail
IL6R genetic variations, especially SNP7 (rs8192284, Asp358Ala), were significantly associated with ... DisGeNET Detail
Although a common, non-synonymous variant in the IL-6 receptor gene (IL6R Asp358Ala; rs2228145 A&gt;... DisGeNET Detail
IL6R genetic variations, especially SNP7 (rs8192284, Asp358Ala), were significantly associated with ... DisGeNET Detail
[A genome-wide survey of the human genome identifies novel loci related to common chronic inflammato... DisGeNET Detail
Interleukin-6 receptor Asp358Ala gene polymorphism is associated with plasma C-reactive protein leve... DisGeNET Detail
Genetics of rheumatoid arthritis contributes to biology and drug discovery. DisGeNET Detail
An Asp358Ala polymorphism of the IL6R has been reported to associate with obesity in Pima Indians. DisGeNET Detail
Previous reports have shown that the Asp358Ala (T/G) polymorphism of the interleukin 6 receptor (IL6... DisGeNET Detail
We performed the current study to investigate the relationship between the IL6R Asp358Ala (T/G) poly... DisGeNET Detail
Although a common, non-synonymous variant in the IL-6 receptor gene (IL6R Asp358Ala; rs2228145 A&gt;... DisGeNET Detail
IL6R genetic variations, especially SNP7 (rs8192284, Asp358Ala), were significantly associated with ... 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
rs2228145 dbSNP
Genome
hg38
Position
chr1:154,454,494-154,454,494
Variant Type
snv
Reference Allele
A
Alternative Allele
C
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1210
Mean of sample read depth (HGVD)
109.68
Standard deviation of sample read depth (HGVD)
52.09
Number of reference allele (HGVD)
1440
Number of alternative allele (HGVD)
980
Allele Frequency (HGVD)
0.4049586776859504
Gene Symbol (HGVD)
IL6R
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))
rs2228145
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.3804
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
6376
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8340
East Asian Allele Counts (ExAC)
3284
East Asian Heterozygous Counts (ExAC)
2008
East Asian Homozygous Counts (ExAC)
638
East Asian Allele Frequency (ExAC)
0.3937649880095923
Chromosome Counts in All Race (ExAC)
117814
Allele Counts in All Race (ExAC)
44253
Heterozygous Counts in All Race (ExAC)
26832
Homozygous Counts in All Race (ExAC)
8710
Allele Frequency in All Race (ExAC)
0.37561749876924644
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