chr4:154607126:T>A Detail (hg19) (TLR2)

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

Information

Genome

Assembly	Position
hg19	chr4:154,607,126-154,607,126
hg38	chr4:153,685,974-153,685,974 View the variant detail on this assembly version.

HGVS

TLR2

Type	Transcript	Protein
RefSeq	NM_001318787.1:c.-1555+1614T>A
	NM_001318789.1:c.-1555+1614T>A
	NM_001318790.1:c.-1555+1614T>A
	NM_001318791.1:c.-1555+1614T>A
	NM_001318793.1:c.-1555+1614T>A
	NM_001318795.1:c.-1555+1614T>A
	NM_001318796.1:c.-1555+1614T>A
	NM_003264.4:c.-1555+1614T>A
Ensemble	ENST00000260010.7:c.-1555+1614T>A
	ENST00000642580.1:c.-89+1614T>A
	ENST00000642700.2:c.-163+1614T>A
	ENST00000643501.2:c.-373+1614T>A
	ENST00000646219.2:c.-447+1614T>A
	ENST00000646900.2:c.-148+1614T>A
	ENST00000714431.1:c.-148+1637T>A
	ENST00000714432.1:c.-283+1614T>A
	ENST00000714433.1:c.-163+1637T>A
	ENST00000714434.1:c.-129+1614T>A
	ENST00000714435.1:c.-342+1614T>A
	ENST00000714436.1:c.-163+1637T>A

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

JP	HGVD:[No Data.]
	ToMMo:0.549
	NCBN:[No Data.]
	NCBN(Hondo):[No Data.]
	NCBN(Ryukyu):[No Data.]
East asia	ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance
Review star	[No Data.]
Show details

Links

TLR2

Type	Database	ID	Link
Gene	MIM	603028	OMIM
	HGNC	11848	HGNC
	Ensembl	ENSG00000137462	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar	tgv19142290	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
0.009	ulcerative colitis	Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp...	BeFree	24776844	Detail
0.033	ulcerative colitis	Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp...	BeFree	24776844	Detail
0.008	Crohn Disease	Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp...	BeFree	24776844	Detail
0.005	Crohn Disease	Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp...	BeFree	24776844	Detail
0.010	ulcerative colitis	Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp...	BeFree	24776844	Detail
0.003	Crohn Disease	Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp...	BeFree	24776844	Detail
0.098	Crohn Disease	Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp...	BeFree	24776844	Detail
0.012	ulcerative colitis	Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp...	BeFree	24776844	Detail
0.183	Crohn Disease	Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp...	BeFree	24776844	Detail
0.422	Crohn Disease	Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp...	BeFree	24776844	Detail
0.003	ulcerative colitis	Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp...	BeFree	24776844	Detail
0.131	Crohn Disease	Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp...	BeFree	24776844	Detail
<0.001	ulcerative colitis	Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp...	BeFree	24776844	Detail
0.008	ulcerative colitis	Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp...	BeFree	24776844	Detail
0.004	ulcerative colitis	Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp...	BeFree	24776844	Detail
<0.001	ulcerative colitis	Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp...	BeFree	24776844	Detail
0.034	ulcerative colitis	Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp...	BeFree	24776844	Detail
0.144	ulcerative colitis	Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp...	BeFree	24776844	Detail
<0.001	Crohn Disease	Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp...	BeFree	24776844	Detail
0.008	ulcerative colitis	Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp...	BeFree	24776844	Detail
0.130	Crohn Disease	Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp...	BeFree	24776844	Detail
0.187	ulcerative colitis	Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp...	BeFree	24776844	Detail
0.012	ulcerative colitis	Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp...	BeFree	24776844	Detail
0.004	Crohn Disease	Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp...	BeFree	24776844	Detail
0.131	ulcerative colitis	Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp...	BeFree	24776844	Detail
<0.001	Crohn Disease	Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp...	BeFree	24776844	Detail
0.009	Crohn Disease	Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp...	BeFree	24776844	Detail
0.034	asthma	The risk of having doctor-diagnosed asthma increased with increasing PM(2.5) lev...	BeFree	20685742	Detail

Annotation

Annotations

Descrption	Source	Links
Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409...	DisGeNET	Detail
Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409...	DisGeNET	Detail
Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409...	DisGeNET	Detail
Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409...	DisGeNET	Detail
Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409...	DisGeNET	Detail
Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409...	DisGeNET	Detail
Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409...	DisGeNET	Detail
Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409...	DisGeNET	Detail
Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409...	DisGeNET	Detail
Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409...	DisGeNET	Detail
Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409...	DisGeNET	Detail
Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409...	DisGeNET	Detail
Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409...	DisGeNET	Detail
Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409...	DisGeNET	Detail
Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409...	DisGeNET	Detail
Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409...	DisGeNET	Detail
Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409...	DisGeNET	Detail
Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409...	DisGeNET	Detail
Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409...	DisGeNET	Detail
Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409...	DisGeNET	Detail
Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409...	DisGeNET	Detail
Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409...	DisGeNET	Detail
Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409...	DisGeNET	Detail
Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409...	DisGeNET	Detail
Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409...	DisGeNET	Detail
Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409...	DisGeNET	Detail
Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409...	DisGeNET	Detail
The risk of having doctor-diagnosed asthma increased with increasing PM(2.5) levels in children with...	DisGeNET	Detail

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs4696480 dbSNP
Genome: hg19
Position: chr4:154,607,126-154,607,126
Variant Type: snv
Reference Allele: T
Alternative Allele: A
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)): rs4696480
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 0.5489
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 9199
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 16760

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