chr2:113130787:ATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC> Detail (hg38) (IL1RN)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chr2:113,888,364-113,888,449
hg38	chr2:113,130,787-113,130,872

HGVS

IL1RN

Type	Transcript	Protein
RefSeq	NM_173841.2:c.215-258_215-173delATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC
	NM_000577.4:c.152-258_152-173delATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC
	NM_001318914.1:c.104-258_104-173delATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC
	NM_173843.2:c.104-258_104-173delATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC
	NM_173842.2:c.206-258_206-173delATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC
Ensemble	ENST00000259206.9:c.215-258_215-173delATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC
	ENST00000354115.6:c.152-258_152-173delATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC
	ENST00000361779.7:c.104-258_104-173delATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC
	ENST00000409930.4:c.206-258_206-173delATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC
	ENST00000696879.1:c.104-258_104-173delATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC
	ENST00000696881.1:c.104-258_104-173delATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star	[No Data.]
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Links

IL1RN

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
0.014	Chronic Obstructive Airway Disease	Genetic polymorphisms of surfactant protein D rs2243639, Interleukin (IL)-1β rs1...	BeFree	24504887	Detail
0.021	Chronic Obstructive Airway Disease	The primary aim of this study was to investigate the association between surfact...	BeFree	24504887	Detail
0.023	periodontitis	Interleukin-1 receptor antagonist polymorphism (rs2234663) and periodontitis sus...	BeFree	22370044	Detail

Annotation

Annotations

Descrption	Source	Links
Genetic polymorphisms of surfactant protein D rs2243639, Interleukin (IL)-1β rs16944 and IL-1RN rs22...	DisGeNET	Detail
The primary aim of this study was to investigate the association between surfactant protein D (SFTPD...	DisGeNET	Detail
Interleukin-1 receptor antagonist polymorphism (rs2234663) and periodontitis susceptibility: a meta-...	DisGeNET	Detail

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs2234663 dbSNP
Genome: hg38
Position: chr2:113,130,787-113,130,872
Variant Type: snv
Reference Allele: ATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC
Alternative Allele: -

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