chr1:150765721:C>T Detail (hg38) (CTSS)

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Information

Genome

Assembly	Position
hg19	chr1:150,738,197-150,738,197 View the variant detail on this assembly version.
hg38	chr1:150,765,721-150,765,721

Summary

Links

Type	Database	ID	Link
Gene	MIM	116845	OMIM
	HGNC	2545	HGNC
	Ensembl	ENSG00000163131	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar	tgv3170064	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
0.003	Coronary heart disease	CTSS promoter -25G/A: not a risk factor for CHD in Chinese.	BeFree	19593952	Detail
0.013	obesity	In the obese cohort, associations were found between three tSNPs and Apo-A1 leve...	BeFree	18565099	Detail

Annotation

Descrption	Source	Links
CTSS promoter -25G/A: not a risk factor for CHD in Chinese.	DisGeNET	Detail
In the obese cohort, associations were found between three tSNPs and Apo-A1 levels in adult female s...	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: rs1136774 dbSNP
Genome: hg38
Position: chr1:150,765,721-150,765,721
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)): rs1136774
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 0.4645
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 7785
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 16760

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