chr13:46846177:T>C Detail (hg38) (HTR2A)

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Information

Genome

Assembly	Position
hg19	chr13:47,420,312-47,420,312 View the variant detail on this assembly version.
hg38	chr13:46,846,177-46,846,177

Summary

Links

Type	Database	ID	Link
Gene	MIM	182135	OMIM
	HGNC	5293	HGNC
	Ensembl	ENSG00000102468	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar	tgv48540714	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	Drug abuse	In suicide attempts, HTR2A variants (rs6561333, rs7997012 and rs1885884) were in...	BeFree	19381154	Detail
0.029	attention deficit hyperactivity disorder	[Nominal significance was shown for 12 SNPs from BDNF, DRD1, HTR1E, HTR2A, HTR3B...	GAD	18937842	Detail

Annotation

Descrption	Source	Links
In suicide attempts, HTR2A variants (rs6561333, rs7997012 and rs1885884) were involved through inter...	DisGeNET	Detail
[Nominal significance was shown for 12 SNPs from BDNF, DRD1, HTR1E, HTR2A, HTR3B, DAT1/SLC6A3, and T...	DisGeNET	Detail

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs6561333 dbSNP
Genome: hg38
Position: chr13:46,846,177-46,846,177
Variant Type: snv
Reference Allele: T
Alternative Allele: C
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)): rs6561333
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 0.609
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 10207
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 16760

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