chr9:134396014:T>C Detail (hg38) (RXRA)

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Information

Genome

Assembly	Position
hg19	chr9:137,287,860-137,287,860 View the variant detail on this assembly version.
hg38	chr9:134,396,014-134,396,014

Summary

Links

Type	Database	ID	Link
Gene	MIM	180245	OMIM
	HGNC	10477	HGNC
	Ensembl	ENSG00000186350	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar	tgv37910383	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	measles	A significant association was found between lower measles-specific IFN-γ Enzyme-...	BeFree	22082653	Detail
<0.001	measles	A significant association was found between lower measles-specific IFN-γ Enzyme-...	BeFree	22082653	Detail

Annotation

Descrption	Source	Links
A significant association was found between lower measles-specific IFN-γ Enzyme-linked immunosorbent...	DisGeNET	Detail
A significant association was found between lower measles-specific IFN-γ Enzyme-linked immunosorbent...	DisGeNET	Detail

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs11103482 dbSNP
Genome: hg38
Position: chr9:134,396,014-134,396,014
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)): rs11103482
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 0.0374
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 627
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 16758

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