chr11:22670928:T>A Detail (hg38) (GAS2)

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

Genome

Assembly	Position
hg19	chr11:22,692,474-22,692,474 View the variant detail on this assembly version.
hg38	chr11:22,670,928-22,670,928

HGVS

GAS2

Type	Transcript	Protein
RefSeq	NM_005256.3:c.-21+2593T>A
	NM_177553.2:c.-21+2593T>A
	NM_001143830.1:c.-20-3922T>A
Ensemble	ENST00000278187.7:c.-21+2593T>A
	ENST00000454584.7:c.-20-3922T>A
	ENST00000630668.2:c.-21+2593T>A

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star	[No Data.]
Show details

Links

GAS2

Type	Database	ID	Link
Gene	MIM	602835	OMIM
	HGNC	4167	HGNC
	Ensembl	ENSG00000148935	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	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	Disorder of Achilles tendon	A total of 358 unaffected control (CON) participants [159 South Africa (SA CON) ...	BeFree	22588838	Detail
<0.001	Disorder of Achilles tendon	This study indicates the independent association of CASP8_rs1045485 and CASP8_rs...	BeFree	22588838	Detail
<0.001	Disorder of Achilles tendon	A total of 358 unaffected control (CON) participants [159 South Africa (SA CON) ...	BeFree	22588838	Detail
<0.001	Tendinopathy	A total of 358 unaffected control (CON) participants [159 South Africa (SA CON) ...	BeFree	22588838	Detail
<0.001	Tendinopathy	A total of 358 unaffected control (CON) participants [159 South Africa (SA CON) ...	BeFree	22588838	Detail
<0.001	Tendinopathy	A total of 358 unaffected control (CON) participants [159 South Africa (SA CON) ...	BeFree	22588838	Detail

Annotation

Annotations

Descrption	Source	Links
A total of 358 unaffected control (CON) participants [159 South Africa (SA CON) and 199 Australia (A...	DisGeNET	Detail
This study indicates the independent association of CASP8_rs1045485 and CASP8_rs3834129 as well as t...	DisGeNET	Detail
A total of 358 unaffected control (CON) participants [159 South Africa (SA CON) and 199 Australia (A...	DisGeNET	Detail
A total of 358 unaffected control (CON) participants [159 South Africa (SA CON) and 199 Australia (A...	DisGeNET	Detail
A total of 358 unaffected control (CON) participants [159 South Africa (SA CON) and 199 Australia (A...	DisGeNET	Detail
A total of 358 unaffected control (CON) participants [159 South Africa (SA CON) and 199 Australia (A...	DisGeNET	Detail

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs384129 dbSNP
Genome: hg38
Position: chr11:22,670,928-22,670,928
Variant Type: snv
Reference Allele: T
Alternative Allele: A

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