chr22:24441333:T>C Detail (hg38) (ADORA2A, SPECC1L-ADORA2A)

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Information

Genome

Assembly	Position
hg19	chr22:24,837,301-24,837,301 View the variant detail on this assembly version.
hg38	chr22:24,441,333-24,441,333

Type	Transcript	Protein
RefSeq	NR_103546.1:c.*2218T>C
Ensemble	ENST00000358654.2:c.*2218T>C

Summary

Links

Type	Database	ID	Link
Gene	MIM	102776	OMIM
	HGNC	263	HGNC
	Ensembl	ENSG00000128271	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar	tgv65532986	TogoVar
	COSMIC
	MONDO

Type	Database	ID	Link
Gene	MIM
	HGNC	49185	HGNC
	Ensembl	ENSG00000258555	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar	tgv65532986	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
0.134	panic disorder	A variant within the corresponding ADORA2A gene (rs5751876) increased the risk f...	BeFree	20334879	Detail
0.134	panic disorder	The complex pathogenesis of anxiety and panic disorder in particular has been su...	BeFree	22940476	Detail
0.125	Anxiety Disorders	Thus, in the present double-blind, placebo-controlled study we attempted to para...	BeFree	22012471	Detail
<0.001	Phobic anxiety disorder	A variant within the corresponding ADORA2A gene (rs5751876) increased the risk f...	BeFree	20334879	Detail
0.002	PANIC DISORDER 1	A variant within the corresponding ADORA2A gene (rs5751876) increased the risk f...	BeFree	20334879	Detail
0.002	PANIC DISORDER 1	The complex pathogenesis of anxiety and panic disorder in particular has been su...	BeFree	22940476	Detail

Annotation

Descrption	Source	Links
A variant within the corresponding ADORA2A gene (rs5751876) increased the risk for panic disorder (P...	DisGeNET	Detail
The complex pathogenesis of anxiety and panic disorder in particular has been suggested to be influe...	DisGeNET	Detail
Thus, in the present double-blind, placebo-controlled study we attempted to paradigmatically investi...	DisGeNET	Detail
A variant within the corresponding ADORA2A gene (rs5751876) increased the risk for panic disorder (P...	DisGeNET	Detail
A variant within the corresponding ADORA2A gene (rs5751876) increased the risk for panic disorder (P...	DisGeNET	Detail
The complex pathogenesis of anxiety and panic disorder in particular has been suggested to be influe...	DisGeNET	Detail

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

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
Genome: hg38
Position: chr22:24,441,333-24,441,333
Variant Type: snv
Reference Allele: T
Alternative Allele: C
Filtering Status (HGVD): PASS
# of samples (HGVD): 1201
Mean of sample read depth (HGVD): 52.57
Standard deviation of sample read depth (HGVD): 25.68
Number of reference allele (HGVD): 1249
Number of alternative allele (HGVD): 1153
Allele Frequency (HGVD): 0.4800166527893422
Gene Symbol (HGVD): ADORA2A
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)): rs5751876
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 0.4721
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 7913
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 16760
East Asian Chromosome Counts (ExAC): 8220
East Asian Allele Counts (ExAC): 4195
East Asian Heterozygous Counts (ExAC): 2131
East Asian Homozygous Counts (ExAC): 1032
East Asian Allele Frequency (ExAC): 0.5103406326034063
Chromosome Counts in All Race (ExAC): 111448
Allele Counts in All Race (ExAC): 60768
Heterozygous Counts in All Race (ExAC): 27608
Homozygous Counts in All Race (ExAC): 16580
Allele Frequency in All Race (ExAC): 0.5452587753930084

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