chr7:55230105:C>T Detail (hg19) (EGFR)

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Information

Genome

Assembly	Position
hg19	chr7:55,230,105-55,230,105
hg38	chr7:55,162,412-55,162,412 View the variant detail on this assembly version.

Summary

Links

Type	Database	ID	Link
Gene	MIM	131550	OMIM
	HGNC	3236	HGNC
	Ensembl	ENSG00000146648	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar	tgv29353914	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
0.010	Glioma	Our comprehensive analysis of nine SNPs in eight genes suggests that the rs73043...	BeFree	23244079	Detail
0.021	Glioma	Our comprehensive analysis of nine SNPs in eight genes suggests that the rs73043...	BeFree	23244079	Detail

Annotation

Descrption	Source	Links
Our comprehensive analysis of nine SNPs in eight genes suggests that the rs730437 and rs1468727 in E...	DisGeNET	Detail
Our comprehensive analysis of nine SNPs in eight genes suggests that the rs730437 and rs1468727 in E...	DisGeNET	Detail

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs1468727 dbSNP
Genome: hg19
Position: chr7:55,230,105-55,230,105
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)): rs1468727
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 0.6194
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 10380
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 16758

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