chr4:153687301:A>G Detail (hg38) (TLR2)

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Information

Genome

Assembly	Position
hg19	chr4:154,608,453-154,608,453 View the variant detail on this assembly version.
hg38	chr4:153,687,301-153,687,301

Summary

Links

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	tgv19142320	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
0.089	Lung diseases	Variant alleles of polymorphisms of TLR2 rs1898830, rs5743708, and rs3804100 dem...	BeFree	23994582	Detail
<0.001	pelvic inflammatory disease	African-American women with PID carrying the AA genotype for TLR2 SNP rs1898830 ...	BeFree	24848367	Detail

Annotation

Descrption	Source	Links
Variant alleles of polymorphisms of TLR2 rs1898830, rs5743708, and rs3804100 demonstrated a consiste...	DisGeNET	Detail
African-American women with PID carrying the AA genotype for TLR2 SNP rs1898830 had a threefold incr...	DisGeNET	Detail

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs1898830 dbSNP
Genome: hg38
Position: chr4:153,687,301-153,687,301
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)): rs1898830
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 0.4542
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 7613
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 16760

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