chr22:19965038:G>A Detail (hg38) (COMT)

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Information

Genome

Assembly	Position
hg19	chr22:19,952,561-19,952,561 View the variant detail on this assembly version.
hg38	chr22:19,965,038-19,965,038

Summary

Links

Type	Database	ID	Link
Gene	MIM	116790	OMIM
	HGNC	2228	HGNC
	Ensembl	ENSG00000093010	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar	tgv65380474	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	Opiate Addiction	To determine whether COMT is important in substance dependence, rs165774 and rs4...	BeFree	22208661	Detail
0.345	schizophrenia	It is possible that the rs165774 SNP, in combination with rs4680, results in a c...	BeFree	22208661	Detail

Annotation

Descrption	Source	Links
To determine whether COMT is important in substance dependence, rs165774 and rs4680 were genotyped a...	DisGeNET	Detail
It is possible that the rs165774 SNP, in combination with rs4680, results in a common molecular vari...	DisGeNET	Detail

Gene	Transcript ID	Exon Number	Chromosome	Start	Stop	Type	Amino Mutation	Transcript Position	Links

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs165774 dbSNP
Genome: hg38
Position: chr22:19,965,038-19,965,038
Variant Type: snv
Reference Allele: G
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)): rs165774
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 0.1607
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 2693
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 16760

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