chr2:113532083:A>G Detail (hg19) (IL1A)

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Information

Genome

Assembly	Position
hg19	chr2:113,532,083-113,532,083
hg38	chr2:112,774,506-112,774,506 View the variant detail on this assembly version.

Type	Transcript	Protein
RefSeq	NM_000575.4:c.*561T>C
Ensemble	ENST00000263339.4:c.*561T>C

Summary

Links

Type	Database	ID	Link
Gene	MIM	147760	OMIM
	HGNC	5991	HGNC
	Ensembl	ENSG00000115008	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar	tgv8208528	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
0.008	ankylosing spondylitis	In addition to the three known IL-1 polymorphisms, rs2856836, rs17561, and rs189...	BeFree	21962386	Detail
0.015	ankylosing spondylitis	In addition to the three known IL-1 polymorphisms, rs2856836, rs17561, and rs189...	BeFree	21962386	Detail

Annotation

Descrption	Source	Links
In addition to the three known IL-1 polymorphisms, rs2856836, rs17561, and rs1894399, found in previ...	DisGeNET	Detail
In addition to the three known IL-1 polymorphisms, rs2856836, rs17561, and rs1894399, found in previ...	DisGeNET	Detail

Gene	Transcript ID	Exon Number	Chromosome	Start	Stop	Type	Amino Mutation	Transcript Position	Links

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs2856836 dbSNP
Genome: hg19
Position: chr2:113,532,083-113,532,083
Variant Type: snv
Reference Allele: A
Alternative Allele: G
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)): rs2856836
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 0.1054
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 1766
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 16760

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