chr8:42271987:A>G Detail (hg38) (IKBKB)

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

Genome

Assembly	Position
hg19	chr8:42,129,505-42,129,505 View the variant detail on this assembly version.
hg38	chr8:42,271,987-42,271,987

HGVS

IKBKB

Type	Transcript	Protein
RefSeq	NM_001556.2:c.-18-96A>G
	NR_040009.1:c.-18-96A>G
	NM_001190720.2:c.-88+518A>G
Ensemble	ENST00000518983.1:c.-18-96A>G
	ENST00000520810.6:c.-18-96A>G
	ENST00000520835.7:c.-88+518A>G

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star	[No Data.]
Show details

Links

IKBKB

Type	Database	ID	Link
Gene	MIM	603258	OMIM
	HGNC	5960	HGNC
	Ensembl	ENSG00000104365	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar	tgv355742974	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
<0.001	Wheezing	IL8-rs4073AT, VEGFA-rs833058CT, MBL2-rs1800450CT and IKBKB-rs3747811AT were asso...	BeFree	25326706	Detail
<0.001	Wheezing	IL8-rs4073AT, VEGFA-rs833058CT, MBL2-rs1800450CT and IKBKB-rs3747811AT were asso...	BeFree	25326706	Detail
<0.001	Wheezing	IL8-rs4073AT, VEGFA-rs833058CT, MBL2-rs1800450CT and IKBKB-rs3747811AT were asso...	BeFree	25326706	Detail
0.001	Wheezing	IL8-rs4073AT, VEGFA-rs833058CT, MBL2-rs1800450CT and IKBKB-rs3747811AT were asso...	BeFree	25326706	Detail
<0.001	Wheezing	IL8-rs4073AT, VEGFA-rs833058CT, MBL2-rs1800450CT and IKBKB-rs3747811AT were asso...	BeFree	25326706	Detail

Annotation

Annotations

Descrption	Source	Links
IL8-rs4073AT, VEGFA-rs833058CT, MBL2-rs1800450CT and IKBKB-rs3747811AT were associated with a signif...	DisGeNET	Detail
IL8-rs4073AT, VEGFA-rs833058CT, MBL2-rs1800450CT and IKBKB-rs3747811AT were associated with a signif...	DisGeNET	Detail
IL8-rs4073AT, VEGFA-rs833058CT, MBL2-rs1800450CT and IKBKB-rs3747811AT were associated with a signif...	DisGeNET	Detail
IL8-rs4073AT, VEGFA-rs833058CT, MBL2-rs1800450CT and IKBKB-rs3747811AT were associated with a signif...	DisGeNET	Detail
IL8-rs4073AT, VEGFA-rs833058CT, MBL2-rs1800450CT and IKBKB-rs3747811AT were associated with a signif...	DisGeNET	Detail

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs3747811 dbSNP
Genome: hg38
Position: chr8:42,271,987-42,271,987
Variant Type: snv
Reference Allele: A
Alternative Allele: G

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