chr6:52617731:C>G Detail (hg19) (GSTA2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr6:52,617,731-52,617,731 |
| hg38 | chr6:52,752,933-52,752,933 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000846.4:c.335G>C | NP_000837.3:p.Ser112Thr |
| Ensemble | ENST00000493422.3:c.335G>C | ENST00000493422.3:p.Ser112Thr |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:0.706 |
| ToMMo:0.688 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.714 |
Prediction
ClinVar
| Clinical Significance | |
| Review star | [No Data.] |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.012 | Malignant neoplasm of lung | Heterozygote carriers of SNPs in CYP1A2 1545T>C, -164C>A and -740T>G; C... | BeFree | 17259654 | Detail |
| 0.041 | Malignant neoplasm of lung | Heterozygote carriers of SNPs in CYP1A2 1545T>C, -164C>A and -740T>G; C... | BeFree | 17259654 | Detail |
| 0.005 | Malignant neoplasm of lung | Heterozygote carriers of SNPs in CYP1A2 1545T>C, -164C>A and -740T>G; C... | BeFree | 17259654 | Detail |
| 0.057 | Malignant neoplasm of lung | Heterozygote carriers of SNPs in CYP1A2 1545T>C, -164C>A and -740T>G; C... | BeFree | 17259654 | Detail |
| 0.002 | Carcinoma of lung | Heterozygote carriers of SNPs in CYP1A2 1545T>C, -164C>A and -740T>G; C... | BeFree | 17259654 | Detail |
| 0.033 | Malignant neoplasm of lung | Heterozygote carriers of SNPs in CYP1A2 1545T>C, -164C>A and -740T>G; C... | BeFree | 17259654 | Detail |
| 0.009 | Carcinoma of lung | Heterozygote carriers of SNPs in CYP1A2 1545T>C, -164C>A and -740T>G; C... | BeFree | 17259654 | Detail |
| 0.002 | Carcinoma of lung | Heterozygote carriers of SNPs in CYP1A2 1545T>C, -164C>A and -740T>G; C... | BeFree | 17259654 | Detail |
| 0.007 | Carcinoma of lung | Heterozygote carriers of SNPs in CYP1A2 1545T>C, -164C>A and -740T>G; C... | BeFree | 17259654 | Detail |
| <0.001 | Carcinoma of lung | Heterozygote carriers of SNPs in CYP1A2 1545T>C, -164C>A and -740T>G; C... | BeFree | 17259654 | Detail |
| 0.016 | Malignant neoplasm of lung | Heterozygote carriers of SNPs in CYP1A2 1545T>C, -164C>A and -740T>G; C... | BeFree | 17259654 | Detail |
| 0.007 | Carcinoma of lung | Heterozygote carriers of SNPs in CYP1A2 1545T>C, -164C>A and -740T>G; C... | BeFree | 17259654 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Heterozygote carriers of SNPs in CYP1A2 1545T>C, -164C>A and -740T>G; CYP2A6 -47A>C; MDR... | DisGeNET | Detail |
| Heterozygote carriers of SNPs in CYP1A2 1545T>C, -164C>A and -740T>G; CYP2A6 -47A>C; MDR... | DisGeNET | Detail |
| Heterozygote carriers of SNPs in CYP1A2 1545T>C, -164C>A and -740T>G; CYP2A6 -47A>C; MDR... | DisGeNET | Detail |
| Heterozygote carriers of SNPs in CYP1A2 1545T>C, -164C>A and -740T>G; CYP2A6 -47A>C; MDR... | DisGeNET | Detail |
| Heterozygote carriers of SNPs in CYP1A2 1545T>C, -164C>A and -740T>G; CYP2A6 -47A>C; MDR... | DisGeNET | Detail |
| Heterozygote carriers of SNPs in CYP1A2 1545T>C, -164C>A and -740T>G; CYP2A6 -47A>C; MDR... | DisGeNET | Detail |
| Heterozygote carriers of SNPs in CYP1A2 1545T>C, -164C>A and -740T>G; CYP2A6 -47A>C; MDR... | DisGeNET | Detail |
| Heterozygote carriers of SNPs in CYP1A2 1545T>C, -164C>A and -740T>G; CYP2A6 -47A>C; MDR... | DisGeNET | Detail |
| Heterozygote carriers of SNPs in CYP1A2 1545T>C, -164C>A and -740T>G; CYP2A6 -47A>C; MDR... | DisGeNET | Detail |
| Heterozygote carriers of SNPs in CYP1A2 1545T>C, -164C>A and -740T>G; CYP2A6 -47A>C; MDR... | DisGeNET | Detail |
| Heterozygote carriers of SNPs in CYP1A2 1545T>C, -164C>A and -740T>G; CYP2A6 -47A>C; MDR... | DisGeNET | Detail |
| Heterozygote carriers of SNPs in CYP1A2 1545T>C, -164C>A and -740T>G; CYP2A6 -47A>C; MDR... | 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
- chr6:52,617,731-52,617,731
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- G
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1210
- Mean of sample read depth (HGVD)
- 126.34
- Standard deviation of sample read depth (HGVD)
- 67.05
- Number of reference allele (HGVD)
- 712
- Number of alternative allele (HGVD)
- 1708
- Allele Frequency (HGVD)
- 0.7057851239669422
- Gene Symbol (HGVD)
- GSTA2
- 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))
- rs2180314
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.6884
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 11538
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8642
- East Asian Allele Counts (ExAC)
- 6167
- East Asian Heterozygous Counts (ExAC)
- 1783
- East Asian Homozygous Counts (ExAC)
- 2192
- East Asian Allele Frequency (ExAC)
- 0.713607961120111
- Chromosome Counts in All Race (ExAC)
- 121380
- Allele Counts in All Race (ExAC)
- 71821
- Heterozygous Counts in All Race (ExAC)
- 27803
- Homozygous Counts in All Race (ExAC)
- 22009
- Allele Frequency in All Race (ExAC)
- 0.5917037403196572
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