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 |
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
Descrption | Source | Links |
---|---|---|
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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