chr2:113890304:T>A Detail (hg19) (IL1RN)

Information

Genome

Assembly Position
hg19 chr2:113,890,304-113,890,304
hg38 chr2:113,132,727-113,132,727 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_173841.2:c.399T>A NP_776213.1:p.Ser133Arg
NM_000577.4:c.336T>A NP_000568.1:p.Ser112Arg
NM_001318914.1:c.288T>A NP_001305843.1:p.Ser96Arg
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 147679 OMIM
HGNC 6000 HGNC
Ensembl ENSG00000136689 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant 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
0.023 ankylosing spondylitis This study's purpose is to investigate the association of ankylosing spondylitis... BeFree 22285486 Detail
0.026 multiple sclerosis Single nucleotide polymorphisms in human pro- and anti-inflammatory genes, inclu... BeFree 21621860 Detail
0.013 multiple sclerosis Single nucleotide polymorphisms in human pro- and anti-inflammatory genes, inclu... BeFree 21621860 Detail
0.124 Kidney Diseases Our results showed that IL1RN (rs315952) was significantly associated with SLE i... BeFree 17176440 Detail
0.021 Lupus Erythematosus, Systemic Polymorphism in IL-1RN rs315952 was significantly associated with SLE in Iranian... BeFree 23722873 Detail
0.021 Kidney Failure, Chronic Using IL1RN as a possible marker in patients with systemic lupus erythematosus (... BeFree 17176440 Detail
0.083 Respiratory Distress Syndrome, Adult We hypothesized that a synonymous coding variant in the IL-1 receptor antagonist... BeFree 25089931 Detail
0.002 Respiratory Distress Syndrome, Adult We hypothesized that a synonymous coding variant in the IL-1 receptor antagonist... BeFree 25089931 Detail
0.001 Chronic kidney disease stage 5 Using IL1RN as a possible marker in patients with systemic lupus erythematosus (... BeFree 17176440 Detail
Annotation

Annotations

DescrptionSourceLinks
This study's purpose is to investigate the association of ankylosing spondylitis with single-nucleot... DisGeNET Detail
Single nucleotide polymorphisms in human pro- and anti-inflammatory genes, including IL1RN VNTR (rs3... DisGeNET Detail
Single nucleotide polymorphisms in human pro- and anti-inflammatory genes, including IL1RN VNTR (rs3... DisGeNET Detail
Our results showed that IL1RN (rs315952) was significantly associated with SLE in patients without r... DisGeNET Detail
Polymorphism in IL-1RN rs315952 was significantly associated with SLE in Iranian patients, rs315952C... DisGeNET Detail
Using IL1RN as a possible marker in patients with systemic lupus erythematosus (SLE), we evaluated w... DisGeNET Detail
We hypothesized that a synonymous coding variant in the IL-1 receptor antagonist gene (IL1RN), rs315... DisGeNET Detail
We hypothesized that a synonymous coding variant in the IL-1 receptor antagonist gene (IL1RN), rs315... DisGeNET Detail
Using IL1RN as a possible marker in patients with systemic lupus erythematosus (SLE), we evaluated w... 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
-
Genome
hg19
Position
chr2:113,890,304-113,890,304
Variant Type
snv
Reference Allele
T
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
8626
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
121340
Allele Counts in All Race (ExAC)
1
Heterozygous Counts in All Race (ExAC)
1
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
8.241305422778968E-6
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