chr11:13352217:C>T Detail (hg38) (BMAL1)

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Information

Genome

Assembly	Position
hg19	chr11:13,373,764-13,373,764 View the variant detail on this assembly version.
hg38	chr11:13,352,217-13,352,217

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	tgv41678859	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	Diabetes Mellitus, Non-Insulin-Dependent	The rs7602358G allele near PER2 was negatively associated with type 2 diabetes i...	BeFree	22485135	Detail
<0.001	Diabetes Mellitus, Non-Insulin-Dependent	The rs7602358G allele near PER2 was negatively associated with type 2 diabetes i...	BeFree	22485135	Detail

Annotation

Descrption	Source	Links
The rs7602358G allele near PER2 was negatively associated with type 2 diabetes in our Punjabi cohort...	DisGeNET	Detail
The rs7602358G allele near PER2 was negatively associated with type 2 diabetes in our Punjabi cohort...	DisGeNET	Detail

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs11022775 dbSNP
Genome: hg38
Position: chr11:13,352,217-13,352,217
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)): rs11022775
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 0.063
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 1055
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 16758

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