chr22:19950164:A>G Detail (hg19) (COMT)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chr22:19,950,164-19,950,164
hg38	chr22:19,962,641-19,962,641 View the variant detail on this assembly version.

HGVS

COMT

Type	Transcript	Protein
RefSeq	NM_000754.3:c.115A>G	NP_000745.1:p.Asn39Asp
	NM_001135162.1:c.115A>G	NP_001128634.1:p.Asn39Asp
	NM_007310.2:c.-36A>G
Ensemble	ENST00000361682.11:c.115A>G	ENST00000361682.11:p.Asn39Asp
	ENST00000403184.5:c.115A>G	ENST00000403184.5:p.Asn39Asp
	ENST00000403710.5:c.115A>G	ENST00000403710.5:p.Asn39Asp
	ENST00000406520.7:c.115A>G	ENST00000406520.7:p.Asn39Asp
	ENST00000407537.5:c.115A>G	ENST00000407537.5:p.Asn39Asp
	ENST00000428707.2:c.115A>G	ENST00000428707.2:p.Asn39Asp
	ENST00000449653.5:c.-36A>G
	ENST00000676678.1:c.115A>G	ENST00000676678.1:p.Asn39Asp
	ENST00000678255.1:c.115A>G	ENST00000678255.1:p.Asn39Asp
	ENST00000678769.1:c.115A>G	ENST00000678769.1:p.Asn39Asp
	ENST00000678868.1:c.115A>G	ENST00000678868.1:p.Asn39Asp

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

JP	HGVD:[No Data.]
	ToMMo:[No Data.]
	NCBN:[No Data.]
	NCBN(Hondo):[No Data.]
	NCBN(Ryukyu):[No Data.]
East asia	ExAC:0.003

Prediction

ClinVar

Clinical Significance
Review star	[No Data.]
Show details

Links

COMT

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
	COSMIC	COSM4596424	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	Flushing	Functional alleles that alter alcoholism-related intermediate phenotypes include...	BeFree	15584875	Detail
0.011	Flushing	Functional alleles that alter alcoholism-related intermediate phenotypes include...	BeFree	15584875	Detail
<0.001	Dysphoric mood	Functional alleles that alter alcoholism-related intermediate phenotypes include...	BeFree	15584875	Detail
0.347	Alcoholic Intoxication, Chronic	Functional alleles that alter alcoholism-related intermediate phenotypes include...	BeFree	15584875	Detail
0.159	Alcoholic Intoxication, Chronic	Functional alleles that alter alcoholism-related intermediate phenotypes include...	BeFree	15584875	Detail
<0.001	Dysphoric mood	Functional alleles that alter alcoholism-related intermediate phenotypes include...	BeFree	15584875	Detail
0.001	Anxiety Disorders	Functional alleles that alter alcoholism-related intermediate phenotypes include...	BeFree	15584875	Detail
0.157	Alcoholic Intoxication, Chronic	Functional alleles that alter alcoholism-related intermediate phenotypes include...	BeFree	15584875	Detail
<0.001	Anxiety Disorders	Functional alleles that alter alcoholism-related intermediate phenotypes include...	BeFree	15584875	Detail
0.017	Anxiety Disorders	Functional alleles that alter alcoholism-related intermediate phenotypes include...	BeFree	15584875	Detail

Annotation

Annotations

Descrption	Source	Links
Functional alleles that alter alcoholism-related intermediate phenotypes include common alcohol dehy...	DisGeNET	Detail
Functional alleles that alter alcoholism-related intermediate phenotypes include common alcohol dehy...	DisGeNET	Detail
Functional alleles that alter alcoholism-related intermediate phenotypes include common alcohol dehy...	DisGeNET	Detail
Functional alleles that alter alcoholism-related intermediate phenotypes include common alcohol dehy...	DisGeNET	Detail
Functional alleles that alter alcoholism-related intermediate phenotypes include common alcohol dehy...	DisGeNET	Detail
Functional alleles that alter alcoholism-related intermediate phenotypes include common alcohol dehy...	DisGeNET	Detail
Functional alleles that alter alcoholism-related intermediate phenotypes include common alcohol dehy...	DisGeNET	Detail
Functional alleles that alter alcoholism-related intermediate phenotypes include common alcohol dehy...	DisGeNET	Detail
Functional alleles that alter alcoholism-related intermediate phenotypes include common alcohol dehy...	DisGeNET	Detail
Functional alleles that alter alcoholism-related intermediate phenotypes include common alcohol dehy...	DisGeNET	Detail

Overlapped Transcript Coordinates

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

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
Genome: hg19
Position: chr22:19,950,164-19,950,164
Variant Type: snv
Reference Allele: A
Alternative Allele: G
East Asian Chromosome Counts (ExAC): 3810
East Asian Allele Counts (ExAC): 13
East Asian Heterozygous Counts (ExAC): 13
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 0.0034120734908136482
Chromosome Counts in All Race (ExAC): 56086
Allele Counts in All Race (ExAC): 187
Heterozygous Counts in All Race (ExAC): 187
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 0.003334165388867097

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