chr11:13403043:G>A Detail (hg19) (BMAL1)

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Information

Genome

Assembly	Position
hg19	chr11:13,403,043-13,403,043
hg38	chr11:13,381,496-13,381,496 View the variant detail on this assembly version.

Summary

Links

Type	Database	ID	Link
Gene	MIM	602550	OMIM
	HGNC	701	HGNC
	Ensembl	ENSG00000133794	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar	tgv41679856	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
<0.001	breast carcinoma	After applying FPRP and BFDP in women with at least four night shifts, an increa...	BeFree	23822714	Detail
<0.001	Malignant neoplasm of breast	After applying FPRP and BFDP in women with at least four night shifts, an increa...	BeFree	23822714	Detail

Annotation

Descrption	Source	Links
After applying FPRP and BFDP in women with at least four night shifts, an increased risk of breast c...	DisGeNET	Detail
After applying FPRP and BFDP in women with at least four night shifts, an increased risk of breast c...	DisGeNET	Detail

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs969485 dbSNP
Genome: hg19
Position: chr11:13,403,043-13,403,043
Variant Type: snv
Reference Allele: G
Alternative Allele: A
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)): rs969485
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 0.457
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 7659
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 16758

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