chr9:27561051:T>C Detail (hg38) (C9orf72)

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Information

Genome

Assembly	Position
hg19	chr9:27,561,049-27,561,049 View the variant detail on this assembly version.
hg38	chr9:27,561,051-27,561,051

Summary

Links

Type	Database	ID	Link
Gene	MIM	614260	OMIM
	HGNC	28337	HGNC
	Ensembl	ENSG00000147894	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar	tgv35913158	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
0.176	amyotrophic lateral sclerosis	[Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as suscept...	GAD	19734901	Detail

Annotation

Descrption	Source	Links
[Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for spo...	DisGeNET	Detail

Gene	Transcript ID	Exon Number	Chromosome	Start	Stop	Type	Amino Mutation	Transcript Position	Links

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs774359 dbSNP
Genome: hg38
Position: chr9:27,561,051-27,561,051
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)): rs774359
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 0.0976
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 1636
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 16760

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