chr1:206768184:T>C Detail (hg38) (IL10)

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Information

Genome

Assembly	Position
hg19	chr1:206,941,529-206,941,529 View the variant detail on this assembly version.
hg38	chr1:206,768,184-206,768,184

Summary

Links

Type	Database	ID	Link
Gene	MIM	124092	OMIM
	HGNC	5962	HGNC
	Ensembl	ENSG00000136634	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar	tgv4568331	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
0.064	tuberculosis	The variant of the TNFA gene at rs3093662, the IL12 gene at rs3213094 and rs3212...	BeFree	21463712	Detail
0.061	tuberculosis	The variant of the TNFA gene at rs3093662, the IL12 gene at rs3213094 and rs3212...	BeFree	21463712	Detail

Annotation

Descrption	Source	Links
The variant of the TNFA gene at rs3093662, the IL12 gene at rs3213094 and rs3212220 and the IL10 gen...	DisGeNET	Detail
The variant of the TNFA gene at rs3093662, the IL12 gene at rs3213094 and rs3212220 and the IL10 gen...	DisGeNET	Detail

Gene	Transcript ID	Exon Number	Chromosome	Start	Stop	Type	Amino Mutation	Transcript Position	Links

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs3024498 dbSNP
Genome: hg38
Position: chr1:206,768,184-206,768,184
Variant Type: snv
Reference Allele: T
Alternative Allele: C
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)): rs3024498
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 0.0014
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 23
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 16760

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