chr4:73740952:T>G Detail (hg38) (CXCL8)

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Information

Genome

Assembly	Position
hg19	chr4:74,606,669-74,606,669 View the variant detail on this assembly version.
hg38	chr4:73,740,952-73,740,952

Summary

Links

Type	Database	ID	Link
Gene	MIM	146930	OMIM
	HGNC	6025	HGNC
	Ensembl	ENSG00000169429	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar	tgv17474981	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	lymphoma	In line with a previous study, rs2466571 in CD46 (HR = 0.73, 95% CI 0.58-0.91, p...	BeFree	25294155	Detail
0.004	lymphoma	In line with a previous study, rs2466571 in CD46 (HR = 0.73, 95% CI 0.58-0.91, p...	BeFree	25294155	Detail

Annotation

Descrption	Source	Links
In line with a previous study, rs2466571 in CD46 (HR = 0.73, 95% CI 0.58-0.91, p = 0.006) showed nom...	DisGeNET	Detail
In line with a previous study, rs2466571 in CD46 (HR = 0.73, 95% CI 0.58-0.91, p = 0.006) showed nom...	DisGeNET	Detail

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs2227307 dbSNP
Genome: hg38
Position: chr4:73,740,952-73,740,952
Variant Type: snv
Reference Allele: T
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)): rs2227307
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 0.3213
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 5385
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 16760

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