chr14:77793207:G>A Detail (hg19) (GSTZ1)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr14:77,793,207-77,793,207 |
hg38 | chr14:77,326,864-77,326,864 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001312660.1:c.94G>A | NP_001299589.1:p.Glu32Lys |
NM_145870.2:c.94G>A | NP_665877.1:p.Glu32Lys | |
NM_145871.2:c.94G>A | NP_665878.2:p.Glu32Lys |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:0.523 |
ToMMo:0.520 | |
NCBN:[No Data.] | |
NCBN(Hondo):[No Data.] | |
NCBN(Ryukyu):[No Data.] | |
East asia | ExAC:0.505 |
Prediction
ClinVar
Clinical Significance |
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Review star | ![]() |
Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
<0.001 | Carcinoma of bladder | Bladder cancer risk overall was associated with GSTO2 Asn142Asp (homozygous; OR=... | BeFree | 22306368 | Detail |
<0.001 | Carcinoma of bladder | Bladder cancer risk overall was associated with GSTO2 Asn142Asp (homozygous; OR=... | BeFree | 22306368 | Detail |
<0.001 | Malignant neoplasm of urinary bladder | Bladder cancer risk overall was associated with GSTO2 Asn142Asp (homozygous; OR=... | BeFree | 22306368 | 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 |
---|---|---|
NM_145870.3(GSTZ1):c.94G>A (p.Glu32Lys) AND not provided | ClinVar | Detail |
NM_145870.3(GSTZ1):c.94G>A (p.Glu32Lys) AND GSTZ1-related disorder | ClinVar | Detail |
Bladder cancer risk overall was associated with GSTO2 Asn142Asp (homozygous; OR=1.4; 95% CI: 1.0-1.9... | DisGeNET | Detail |
Bladder cancer risk overall was associated with GSTO2 Asn142Asp (homozygous; OR=1.4; 95% CI: 1.0-1.9... | DisGeNET | Detail |
Bladder cancer risk overall was associated with GSTO2 Asn142Asp (homozygous; OR=1.4; 95% CI: 1.0-1.9... | 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
- -
- dbSNP
- rs7975 dbSNP
- Genome
- hg19
- Position
- chr14:77,793,207-77,793,207
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1047
- Mean of sample read depth (HGVD)
- 21.29
- Standard deviation of sample read depth (HGVD)
- 10.20
- Number of reference allele (HGVD)
- 998
- Number of alternative allele (HGVD)
- 1095
- Allele Frequency (HGVD)
- 0.5231724796942189
- Gene Symbol (HGVD)
- GSTZ1
- 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))
- rs7975
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.52
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 8716
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 7196
- East Asian Allele Counts (ExAC)
- 3636
- East Asian Heterozygous Counts (ExAC)
- 2006
- East Asian Homozygous Counts (ExAC)
- 815
- East Asian Allele Frequency (ExAC)
- 0.5052807115063924
- Chromosome Counts in All Race (ExAC)
- 88310
- Allele Counts in All Race (ExAC)
- 33098
- Heterozygous Counts in All Race (ExAC)
- 22850
- Homozygous Counts in All Race (ExAC)
- 5124
- Allele Frequency in All Race (ExAC)
- 0.3747933416374137
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