chr8:27456253:T>C Detail (hg19) (CLU)

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Information

Genome

Assembly	Position
hg19	chr8:27,456,253-27,456,253
hg38	chr8:27,598,736-27,598,736 View the variant detail on this assembly version.

Summary

Links

Type	Database	ID	Link
Gene	MIM	185430	OMIM
	HGNC	2095	HGNC
	Ensembl	ENSG00000120885	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar	tgv32586390	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
0.287	Alzheimer's disease	CLU rs2279590 polymorphism contributes to Alzheimer's disease susceptibility in ...	BeFree	24947876	Detail
0.287	Alzheimer's disease	Genome-wide association study identifies variants at CLU and CR1 associated with...	GWASCAT	19734903	Detail

Annotation

Descrption	Source	Links
CLU rs2279590 polymorphism contributes to Alzheimer's disease susceptibility in Caucasian and Asian ...	DisGeNET	Detail
Genome-wide association study identifies variants at CLU and CR1 associated with Alzheimer's disease...	DisGeNET	Detail

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs2279590 dbSNP
Genome: hg19
Position: chr8:27,456,253-27,456,253
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)): rs2279590
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 0.75
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 12570
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 16760

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