chr10:106039185:A>G Detail (hg19) (GSTO2)

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

Genome

Assembly	Position
hg19	chr10:106,039,185-106,039,185
hg38	chr10:104,279,427-104,279,427 View the variant detail on this assembly version.

HGVS

GSTO2

Type	Transcript	Protein
RefSeq	NM_001191013.1:c.366+1311A>G
	NM_183239.1:c.424A>G	NP_899062.1:p.Asn142Asp
	NM_001191014.1:c.340A>G	NP_001177943.1:p.Asn114Asp
	NM_001191015.1:c.340A>G	NP_001177944.1:p.Asn114Asp
Ensemble	ENST00000450629.6:c.366+1311A>G
	ENST00000338595.7:c.424A>G	ENST00000338595.7:p.Asn142Asp
	ENST00000369707.2:c.340A>G	ENST00000369707.2:p.Asn114Asp

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

JP	HGVD:0.279
	ToMMo:0.271
	NCBN:[No Data.]
	NCBN(Hondo):[No Data.]
	NCBN(Ryukyu):[No Data.]
East asia	ExAC:0.239

Prediction

ClinVar

Clinical Significance
Review star	[No Data.]
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Links

GSTO2

Type	Database	ID	Link
Gene	MIM	612314	OMIM
	HGNC	23064	HGNC
	Ensembl	ENSG00000065621	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar	tgv40516874	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	Malignant neoplasm of urinary bladder	To clarify the role of genetic polymorphisms of GSTO1 (rs4925) and GSTO2 (rs1566...	BeFree	25716313	Detail
<0.001	Carcinoma of bladder	Bladder cancer risk overall was associated with GSTO2 Asn142Asp (homozygous; OR=...	BeFree	22306368	Detail
<0.001	Carcinoma of bladder	To clarify the role of genetic polymorphisms of GSTO1 (rs4925) and GSTO2 (rs1566...	BeFree	25716313	Detail
<0.001	Carcinoma of bladder	To clarify the role of genetic polymorphisms of GSTO1 (rs4925) and GSTO2 (rs1566...	BeFree	25716313	Detail
<0.001	Malignant neoplasm of urinary bladder	To clarify the role of genetic polymorphisms of GSTO1 (rs4925) and GSTO2 (rs1566...	BeFree	25716313	Detail
0.005	Malignant neoplasm of urinary bladder	To examine the association of six glutathione transferase (GST) gene polymorphis...	BeFree	24040330	Detail
<0.001	Carcinoma of bladder	Bladder cancer risk overall was associated with GSTO2 Asn142Asp (homozygous; OR=...	BeFree	22306368	Detail
0.003	colorectal cancer	Association between N142D genetic polymorphism of GSTO2 and susceptibility to co...	BeFree	21113667	Detail
<0.001	Malignant neoplasm of urinary bladder	Bladder cancer risk overall was associated with GSTO2 Asn142Asp (homozygous; OR=...	BeFree	22306368	Detail
0.004	Carcinoma of bladder	To examine the association of six glutathione transferase (GST) gene polymorphis...	BeFree	24040330	Detail
0.003	Malignant neoplasm of urinary bladder	Bladder cancer risk overall was associated with GSTO2 Asn142Asp (homozygous; OR=...	BeFree	22306368	Detail

Annotation

Annotations

Descrption	Source	Links
To clarify the role of genetic polymorphisms of GSTO1 (rs4925) and GSTO2 (rs156697) in individual su...	DisGeNET	Detail
Bladder cancer risk overall was associated with GSTO2 Asn142Asp (homozygous; OR=1.4; 95% CI: 1.0-1.9...	DisGeNET	Detail
To clarify the role of genetic polymorphisms of GSTO1 (rs4925) and GSTO2 (rs156697) in individual su...	DisGeNET	Detail
To clarify the role of genetic polymorphisms of GSTO1 (rs4925) and GSTO2 (rs156697) in individual su...	DisGeNET	Detail
To clarify the role of genetic polymorphisms of GSTO1 (rs4925) and GSTO2 (rs156697) in individual su...	DisGeNET	Detail
To examine the association of six glutathione transferase (GST) gene polymorphisms (GSTT1, GSTP1/rs1...	DisGeNET	Detail
Bladder cancer risk overall was associated with GSTO2 Asn142Asp (homozygous; OR=1.4; 95% CI: 1.0-1.9...	DisGeNET	Detail
Association between N142D genetic polymorphism of GSTO2 and susceptibility to colorectal cancer.	DisGeNET	Detail
Bladder cancer risk overall was associated with GSTO2 Asn142Asp (homozygous; OR=1.4; 95% CI: 1.0-1.9...	DisGeNET	Detail
To examine the association of six glutathione transferase (GST) gene polymorphisms (GSTT1, GSTP1/rs1...	DisGeNET	Detail
Bladder cancer risk overall was associated with GSTO2 Asn142Asp (homozygous; OR=1.4; 95% CI: 1.0-1.9...	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: chr10:106,039,185-106,039,185
Variant Type: snv
Reference Allele: A
Alternative Allele: G
Filtering Status (HGVD): PASS
# of samples (HGVD): 1200
Mean of sample read depth (HGVD): 67.22
Standard deviation of sample read depth (HGVD): 30.94
Number of reference allele (HGVD): 1731
Number of alternative allele (HGVD): 669
Allele Frequency (HGVD): 0.27875
Gene Symbol (HGVD): GSTO2
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)): rs156697
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 0.2709
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 4540
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 16760
East Asian Chromosome Counts (ExAC): 8636
East Asian Allele Counts (ExAC): 2063
East Asian Heterozygous Counts (ExAC): 1533
East Asian Homozygous Counts (ExAC): 265
East Asian Allele Frequency (ExAC): 0.2388837424733673
Chromosome Counts in All Race (ExAC): 121314
Allele Counts in All Race (ExAC): 43210
Heterozygous Counts in All Race (ExAC): 25644
Homozygous Counts in All Race (ExAC): 8783
Allele Frequency in All Race (ExAC): 0.35618312808084807

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