chr15:75643759:G>T Detail (hg19) (NEIL1)

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Information

Genome

Assembly	Position
hg19	chr15:75,643,759-75,643,759
hg38	chr15:75,351,418-75,351,418 View the variant detail on this assembly version.

Summary

Links

Type	Database	ID	Link
Gene	MIM	608844	OMIM
	HGNC	18448	HGNC
	Ensembl	ENSG00000140398	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar	tgv53565712	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
0.005	squamous cell carcinoma	Genotype and haplotypes of the NEIL1 NT_010194.16:g.46434077G>T (rs7182283) a...	BeFree	18594018	Detail
0.005	squamous cell carcinoma	Genotype and haplotypes of the NEIL1 NT_010194.16:g.46434077G>T (rs7182283) a...	BeFree	18594018	Detail

Annotation

Descrption	Source	Links
Genotype and haplotypes of the NEIL1 NT_010194.16:g.46434077G>T (rs7182283) and g.46438282C>G ...	DisGeNET	Detail
Genotype and haplotypes of the NEIL1 NT_010194.16:g.46434077G>T (rs7182283) and g.46438282C>G ...	DisGeNET	Detail

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs7182283 dbSNP
Genome: hg19
Position: chr15:75,643,759-75,643,759
Variant Type: snv
Reference Allele: G
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)): rs7182283
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 0.4863
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 8151
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 16760

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