chr1:206779403:T>A Detail (hg38) (IL19)

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Information

Genome

Assembly	Position
hg19	chr1:206,952,748-206,952,748 View the variant detail on this assembly version.
hg38	chr1:206,779,403-206,779,403

Summary

Links

Type	Database	ID	Link
Gene	MIM	605687	OMIM
	HGNC	5990	HGNC
	Ensembl	ENSG00000142224	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar	tgv4568737	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	Cutaneous Melanoma	We investigated the role of a haplotype from distal as well as proximal polymorp...	BeFree	19458621	Detail
0.004	lymphoma	Five hundred patients with aggressive NHL treated with CHOP/CHOEP were analyzed ...	BeFree	18559596	Detail

Annotation

Descrption	Source	Links
We investigated the role of a haplotype from distal as well as proximal polymorphic sites [-7400InDe...	DisGeNET	Detail
Five hundred patients with aggressive NHL treated with CHOP/CHOEP were analyzed for IL-10 gene polym...	DisGeNET	Detail

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs6676671 dbSNP
Genome: hg38
Position: chr1:206,779,403-206,779,403
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)): rs6676671
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 0.0147
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 246
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 16760

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