chr11:27723775:T>A Detail (hg19) (BDNF)

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Information

Genome

Assembly	Position
hg19	chr11:27,723,775-27,723,775
hg38	chr11:27,702,228-27,702,228 View the variant detail on this assembly version.

Summary

Links

Type	Database	ID	Link
Gene	MIM	113505	OMIM
	HGNC	1033	HGNC
	Ensembl	ENSG00000176697	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar	tgv42011083	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	Common Migraine	Five SNPs in the BDNF locus (rs1519480, rs6265, rs712507, rs2049046, and rs12273...	BeFree	24708359	Detail
<0.001	migraine with aura	Five SNPs in the BDNF locus (rs1519480, rs6265, rs712507, rs2049046, and rs12273...	BeFree	24708359	Detail

Annotation

Descrption	Source	Links
Five SNPs in the BDNF locus (rs1519480, rs6265, rs712507, rs2049046, and rs12273363) were genotyped ...	DisGeNET	Detail
Five SNPs in the BDNF locus (rs1519480, rs6265, rs712507, rs2049046, and rs12273363) were genotyped ...	DisGeNET	Detail

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs2049046 dbSNP
Genome: hg19
Position: chr11:27,723,775-27,723,775
Variant Type: snv
Reference Allele: T
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)): rs2049046
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 0.5465
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 9158
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 16758

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