chr1:206948639:C>T Detail (hg19) (IL19)

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Information

Genome

Assembly	Position
hg19	chr1:206,948,639-206,948,639
hg38	chr1:206,775,294-206,775,294 View the variant detail on this assembly version.

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	tgv4568640	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
0.007	uveitis	The results demonstrate that uveitis is associated with three haplotype-tagging ...	BeFree	20335604	Detail
0.007	uveitis	[The results demonstrate that uveitis is associated with three haplotype-tagging...	GAD	20335604	Detail

Annotation

Descrption	Source	Links
The results demonstrate that uveitis is associated with three haplotype-tagging SNPs (htSNPs) in the...	DisGeNET	Detail
[The results demonstrate that uveitis is associated with three haplotype-tagging SNPs (htSNPs) in th...	DisGeNET	Detail

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs6703630 dbSNP
Genome: hg19
Position: chr1:206,948,639-206,948,639
Variant Type: snv
Reference Allele: C
Alternative Allele: T
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)): rs6703630
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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