chr13:46867572:T>C Detail (hg38) (HTR2A)

Go to:

Information

Genome

Assembly	Position
hg19	chr13:47,441,707-47,441,707 View the variant detail on this assembly version.
hg38	chr13:46,867,572-46,867,572

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	tgv48541118	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
0.008	rheumatoid arthritis	[Genetic variations in the serotonin 5-HT2A receptor gene (HTR2A) are associated...	GAD	18006541	Detail
0.008	rheumatoid arthritis	Patients with established RA (n=379) were genotyped for two single-nucleotide po...	BeFree	23254357	Detail

Annotation

Descrption	Source	Links
[Genetic variations in the serotonin 5-HT2A receptor gene (HTR2A) are associated with rheumatoid art...	DisGeNET	Detail
Patients with established RA (n=379) were genotyped for two single-nucleotide polymorphisms (SNPs) i...	DisGeNET	Detail

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs1328674 dbSNP
Genome: hg38
Position: chr13:46,867,572-46,867,572
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)): rs1328674
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 0.9645
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 16165
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 16760

Genome browser