chr11:13397878:C>T Detail (hg19) (BMAL1)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chr11:13,397,878-13,397,878
hg38	chr11:13,376,331-13,376,331 View the variant detail on this assembly version.

HGVS

BMAL1

Type	Transcript	Protein
RefSeq	NM_001297724.1:c.1194-309C>T
	NM_001030272.2:c.1323-309C>T
	NM_001178.5:c.1323-309C>T
	NM_001297719.1:c.1326-309C>T
	NM_001297722.1:c.1326-309C>T
	NM_001030273.2:c.1326-309C>T
Ensemble	ENST00000403482.7:c.1320-309C>T
	ENST00000673817.1:c.1323-309C>T
	ENST00000401424.6:c.1194-309C>T
	ENST00000389707.8:c.1323-309C>T
	ENST00000403290.6:c.1326-309C>T
	ENST00000403510.8:c.1326-309C>T

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

JP	HGVD:[No Data.]
	ToMMo:0.208
	NCBN:[No Data.]
	NCBN(Hondo):[No Data.]
	NCBN(Ryukyu):[No Data.]
East asia	ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance
Review star	[No Data.]
Show details

Links

BMAL1

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	tgv41679636	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
<0.001	Malignant neoplasm of breast	In women with three consecutive night shifts, a reduced risk of breast cancer wa...	BeFree	23822714	Detail
0.002	breast carcinoma	In women with three consecutive night shifts, a reduced risk of breast cancer wa...	BeFree	23822714	Detail
0.001	breast carcinoma	In women with three consecutive night shifts, a reduced risk of breast cancer wa...	BeFree	23822714	Detail
<0.001	breast carcinoma	In women with three consecutive night shifts, a reduced risk of breast cancer wa...	BeFree	23822714	Detail
0.002	breast carcinoma	In women with three consecutive night shifts, a reduced risk of breast cancer wa...	BeFree	23822714	Detail
0.003	Malignant neoplasm of breast	In women with three consecutive night shifts, a reduced risk of breast cancer wa...	BeFree	23822714	Detail
0.009	Malignant neoplasm of breast	In women with three consecutive night shifts, a reduced risk of breast cancer wa...	BeFree	23822714	Detail
0.002	breast carcinoma	In women with three consecutive night shifts, a reduced risk of breast cancer wa...	BeFree	23822714	Detail
0.002	Malignant neoplasm of breast	In women with three consecutive night shifts, a reduced risk of breast cancer wa...	BeFree	23822714	Detail
0.003	breast carcinoma	In women with three consecutive night shifts, a reduced risk of breast cancer wa...	BeFree	23822714	Detail
0.002	Malignant neoplasm of breast	In women with three consecutive night shifts, a reduced risk of breast cancer wa...	BeFree	23822714	Detail
0.001	Malignant neoplasm of breast	In women with three consecutive night shifts, a reduced risk of breast cancer wa...	BeFree	23822714	Detail

Annotation

Annotations

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
In women with three consecutive night shifts, a reduced risk of breast cancer was associated with ca...	DisGeNET	Detail
In women with three consecutive night shifts, a reduced risk of breast cancer was associated with ca...	DisGeNET	Detail
In women with three consecutive night shifts, a reduced risk of breast cancer was associated with ca...	DisGeNET	Detail
In women with three consecutive night shifts, a reduced risk of breast cancer was associated with ca...	DisGeNET	Detail
In women with three consecutive night shifts, a reduced risk of breast cancer was associated with ca...	DisGeNET	Detail
In women with three consecutive night shifts, a reduced risk of breast cancer was associated with ca...	DisGeNET	Detail
In women with three consecutive night shifts, a reduced risk of breast cancer was associated with ca...	DisGeNET	Detail
In women with three consecutive night shifts, a reduced risk of breast cancer was associated with ca...	DisGeNET	Detail
In women with three consecutive night shifts, a reduced risk of breast cancer was associated with ca...	DisGeNET	Detail
In women with three consecutive night shifts, a reduced risk of breast cancer was associated with ca...	DisGeNET	Detail
In women with three consecutive night shifts, a reduced risk of breast cancer was associated with ca...	DisGeNET	Detail
In women with three consecutive night shifts, a reduced risk of breast cancer was associated with ca...	DisGeNET	Detail

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs2278749 dbSNP
Genome: hg19
Position: chr11:13,397,878-13,397,878
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)): rs2278749
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 0.2083
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 3491
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 16758

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