chr16:28606193:C>T Detail (hg38) (SULT1A1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr16:28,617,514-28,617,514 View the variant detail on this assembly version. |
| hg38 | chr16:28,606,193-28,606,193 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001055.3:c.638G>A | NP_001046.2:p.Arg213His |
| NM_177529.2:c.638G>A | NP_803565.1:p.Arg213His | |
| Ensemble | ENST00000314752.12:c.638G>A | ENST00000314752.12:p.Arg213His |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:0.135 |
| ToMMo:0.136 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.048 |
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 |
|---|---|---|---|---|---|
| <0.001 | Breast Cancer, Familial | This case control study investigated whether polymorphisms of estrogen metaboliz... | BeFree | 19863350 | Detail |
| 0.013 | Malignant neoplasm of lung | MDR analysis identified two distinct predictor models for the risk of lung cance... | BeFree | 22206016 | Detail |
| 0.002 | Carcinoma of lung | MDR analysis identified two distinct predictor models for the risk of lung cance... | BeFree | 22206016 | Detail |
| 0.009 | Carcinoma of lung | MDR analysis identified two distinct predictor models for the risk of lung cance... | BeFree | 22206016 | Detail |
| 0.066 | Malignant neoplasm of lung | MDR analysis identified two distinct predictor models for the risk of lung cance... | BeFree | 22206016 | Detail |
| 0.089 | Malignant neoplasm of breast | Recently, SULT1A1 common functional polymorphism Arg(213)His (638G>A) variant... | BeFree | 25385181 | Detail |
| 0.089 | Malignant neoplasm of breast | SULT1A1 Arg213His didn't show any association with breast cancer, but the possib... | BeFree | 25225888 | Detail |
| 0.035 | colorectal cancer | Association of the SULT1A1 R213H polymorphism with colorectal cancer. | BeFree | 12165038 | Detail |
| 0.002 | colorectal carcinoma | Lack of association of SULT1A1 R213H polymorphism with colorectal cancer: a meta... | BeFree | 21695180 | Detail |
| 0.035 | colorectal cancer | Lack of association of SULT1A1 R213H polymorphism with colorectal cancer: a meta... | BeFree | 21695180 | Detail |
| 0.001 | Carcinoma of bladder | SULT1A1 Arg213His polymorphism is associated with bladder cancer risk: a meta-an... | BeFree | 25194687 | Detail |
| 0.096 | Malignant neoplasm of breast | Conclusively, our findings suggest that GSTT1 null genotype and SULT1A1 G638A AA... | BeFree | 25648141 | Detail |
| 0.013 | Malignant neoplasm of lung | An investigation of the relationship between SULT1A1 Arg(213)His polymorphism an... | BeFree | 19350537 | Detail |
| 0.003 | Malignant neoplasm of male breast | Results indicate that SULT1A1 Arg(213)His may act as a low-penetrance risk allel... | BeFree | 25385181 | Detail |
| 0.002 | Carcinoma of lung | A functional polymorphism in the SULT1A1 gene (G638A) is associated with risk of... | BeFree | 14688021 | Detail |
| <0.001 | Malignant neoplasm of lung | Statistical analyses of histological types of lung cancer in comparison with the... | BeFree | 19350537 | Detail |
| <0.001 | Carcinogenesis | The present meta-analysis suggests that SULT1A1 Arg213His polymorphism plays an ... | BeFree | 25225888 | Detail |
| 0.013 | Malignant neoplasm of lung | SULT1A1 Arg213His polymorphism and lung cancer risk: a meta-analysis. | BeFree | 22524828 | Detail |
| 0.020 | Malignant neoplasm of urinary bladder | SULT1A1 Arg213His polymorphism is associated with bladder cancer risk: a meta-an... | BeFree | 25194687 | Detail |
| 0.002 | Carcinoma of lung | An investigation of the relationship between SULT1A1 Arg(213)His polymorphism an... | BeFree | 19350537 | Detail |
| 0.089 | Malignant neoplasm of breast | SULT1A1 R213H polymorphism and breast cancer risk: a meta-analysis based on 8,45... | BeFree | 19949855 | Detail |
| 0.009 | breast carcinoma | Recently, SULT1A1 common functional polymorphism Arg(213)His (638G>A) variant... | BeFree | 25385181 | Detail |
| 0.009 | breast carcinoma | SULT1A1 Arg213His didn't show any association with breast cancer, but the possib... | BeFree | 25225888 | Detail |
| 0.001 | Carcinoma of bladder | Association between the SULT1A1 Arg213His polymorphism and the risk of bladder c... | BeFree | 24763827 | Detail |
| 0.016 | breast carcinoma | Conclusively, our findings suggest that GSTT1 null genotype and SULT1A1 G638A AA... | BeFree | 25648141 | Detail |
| 0.002 | colorectal carcinoma | Association of the SULT1A1 R213H polymorphism with colorectal cancer. | BeFree | 12165038 | Detail |
| 0.009 | breast carcinoma | SULT1A1 Arg213His polymorphism, smoked meat, and breast cancer risk: a case-cont... | BeFree | 22011087 | Detail |
| 0.009 | breast carcinoma | Conclusively, our findings suggest that GSTT1 null genotype and SULT1A1 G638A AA... | BeFree | 25648141 | Detail |
| <0.001 | Squamous cell carcinoma of the head and neck | The purpose of this study was to evaluate whether SULT1A1 Arg213His polymorphism... | BeFree | 16575574 | Detail |
| 0.002 | Carcinoma of lung | SULT1A1 Arg213His polymorphism and lung cancer risk: a meta-analysis. | BeFree | 22524828 | Detail |
| 0.089 | Malignant neoplasm of breast | Conclusively, our findings suggest that GSTT1 null genotype and SULT1A1 G638A AA... | BeFree | 25648141 | Detail |
| 0.013 | Malignant neoplasm of lung | A functional polymorphism in the SULT1A1 gene (G638A) is associated with risk of... | BeFree | 14688021 | Detail |
| 0.004 | Carcinoma of male breast | Results indicate that SULT1A1 Arg(213)His may act as a low-penetrance risk allel... | BeFree | 25385181 | Detail |
| <0.001 | Carcinoma of lung | Statistical analyses of histological types of lung cancer in comparison with the... | BeFree | 19350537 | Detail |
| 0.009 | breast carcinoma | SULT1A1 rs9282861 polymorphism-a potential modifier of efficacy of the systemic ... | BeFree | 22708928 | Detail |
| 0.009 | breast carcinoma | SULT1A1 R213H polymorphism and breast cancer risk: a meta-analysis based on 8,45... | BeFree | 19949855 | Detail |
| 0.089 | Malignant neoplasm of breast | SULT1A1 Arg213His polymorphism, smoked meat, and breast cancer risk: a case-cont... | BeFree | 22011087 | Detail |
| 0.089 | Malignant neoplasm of breast | SULT1A1 rs9282861 polymorphism-a potential modifier of efficacy of the systemic ... | BeFree | 22708928 | Detail |
| 0.020 | Malignant neoplasm of urinary bladder | Association between the SULT1A1 Arg213His polymorphism and the risk of bladder c... | BeFree | 24763827 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| This case control study investigated whether polymorphisms of estrogen metabolizing genes CYP1A1 Msp... | DisGeNET | Detail |
| MDR analysis identified two distinct predictor models for the risk of lung cancer in smokers (tobacc... | DisGeNET | Detail |
| MDR analysis identified two distinct predictor models for the risk of lung cancer in smokers (tobacc... | DisGeNET | Detail |
| MDR analysis identified two distinct predictor models for the risk of lung cancer in smokers (tobacc... | DisGeNET | Detail |
| MDR analysis identified two distinct predictor models for the risk of lung cancer in smokers (tobacc... | DisGeNET | Detail |
| Recently, SULT1A1 common functional polymorphism Arg(213)His (638G>A) variant has been found to b... | DisGeNET | Detail |
| SULT1A1 Arg213His didn't show any association with breast cancer, but the possible risk in Asian pop... | DisGeNET | Detail |
| Association of the SULT1A1 R213H polymorphism with colorectal cancer. | DisGeNET | Detail |
| Lack of association of SULT1A1 R213H polymorphism with colorectal cancer: a meta-analysis. | DisGeNET | Detail |
| Lack of association of SULT1A1 R213H polymorphism with colorectal cancer: a meta-analysis. | DisGeNET | Detail |
| SULT1A1 Arg213His polymorphism is associated with bladder cancer risk: a meta-analysis. | DisGeNET | Detail |
| Conclusively, our findings suggest that GSTT1 null genotype and SULT1A1 G638A AA genotype could be u... | DisGeNET | Detail |
| An investigation of the relationship between SULT1A1 Arg(213)His polymorphism and lung cancer suscep... | DisGeNET | Detail |
| Results indicate that SULT1A1 Arg(213)His may act as a low-penetrance risk allele for developing MBC... | DisGeNET | Detail |
| A functional polymorphism in the SULT1A1 gene (G638A) is associated with risk of lung cancer in rela... | DisGeNET | Detail |
| Statistical analyses of histological types of lung cancer in comparison with the control individuals... | DisGeNET | Detail |
| The present meta-analysis suggests that SULT1A1 Arg213His polymorphism plays an important role in ca... | DisGeNET | Detail |
| SULT1A1 Arg213His polymorphism and lung cancer risk: a meta-analysis. | DisGeNET | Detail |
| SULT1A1 Arg213His polymorphism is associated with bladder cancer risk: a meta-analysis. | DisGeNET | Detail |
| An investigation of the relationship between SULT1A1 Arg(213)His polymorphism and lung cancer suscep... | DisGeNET | Detail |
| SULT1A1 R213H polymorphism and breast cancer risk: a meta-analysis based on 8,454 cases and 11,800 c... | DisGeNET | Detail |
| Recently, SULT1A1 common functional polymorphism Arg(213)His (638G>A) variant has been found to b... | DisGeNET | Detail |
| SULT1A1 Arg213His didn't show any association with breast cancer, but the possible risk in Asian pop... | DisGeNET | Detail |
| Association between the SULT1A1 Arg213His polymorphism and the risk of bladder cancer: a meta-analys... | DisGeNET | Detail |
| Conclusively, our findings suggest that GSTT1 null genotype and SULT1A1 G638A AA genotype could be u... | DisGeNET | Detail |
| Association of the SULT1A1 R213H polymorphism with colorectal cancer. | DisGeNET | Detail |
| SULT1A1 Arg213His polymorphism, smoked meat, and breast cancer risk: a case-control study and meta-a... | DisGeNET | Detail |
| Conclusively, our findings suggest that GSTT1 null genotype and SULT1A1 G638A AA genotype could be u... | DisGeNET | Detail |
| The purpose of this study was to evaluate whether SULT1A1 Arg213His polymorphisms are risk factors f... | DisGeNET | Detail |
| SULT1A1 Arg213His polymorphism and lung cancer risk: a meta-analysis. | DisGeNET | Detail |
| Conclusively, our findings suggest that GSTT1 null genotype and SULT1A1 G638A AA genotype could be u... | DisGeNET | Detail |
| A functional polymorphism in the SULT1A1 gene (G638A) is associated with risk of lung cancer in rela... | DisGeNET | Detail |
| Results indicate that SULT1A1 Arg(213)His may act as a low-penetrance risk allele for developing MBC... | DisGeNET | Detail |
| Statistical analyses of histological types of lung cancer in comparison with the control individuals... | DisGeNET | Detail |
| SULT1A1 rs9282861 polymorphism-a potential modifier of efficacy of the systemic adjuvant therapy in ... | DisGeNET | Detail |
| SULT1A1 R213H polymorphism and breast cancer risk: a meta-analysis based on 8,454 cases and 11,800 c... | DisGeNET | Detail |
| SULT1A1 Arg213His polymorphism, smoked meat, and breast cancer risk: a case-control study and meta-a... | DisGeNET | Detail |
| SULT1A1 rs9282861 polymorphism-a potential modifier of efficacy of the systemic adjuvant therapy in ... | DisGeNET | Detail |
| Association between the SULT1A1 Arg213His polymorphism and the risk of bladder cancer: a meta-analys... | 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
- hg38
- Position
- chr16:28,606,193-28,606,193
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- Filtering Status (HGVD)
- PASS
- Filtering Status (HGVD)
- VQSRTrancheSNP99.00to99.90
- # of samples (HGVD)
- 764
- Mean of sample read depth (HGVD)
- 15.00
- Standard deviation of sample read depth (HGVD)
- 34.31
- Number of reference allele (HGVD)
- 1321
- Number of alternative allele (HGVD)
- 207
- Allele Frequency (HGVD)
- 0.1354712041884817
- Gene Symbol (HGVD)
- SULT1A1
- ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- VQSRTrancheSNP99.60to99.80
- Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- rs1042028
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.1363
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 2284
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8490
- East Asian Allele Counts (ExAC)
- 407
- East Asian Heterozygous Counts (ExAC)
- 365
- East Asian Homozygous Counts (ExAC)
- 21
- East Asian Allele Frequency (ExAC)
- 0.04793875147232038
- Chromosome Counts in All Race (ExAC)
- 111476
- Allele Counts in All Race (ExAC)
- 24614
- Heterozygous Counts in All Race (ExAC)
- 17234
- Homozygous Counts in All Race (ExAC)
- 3690
- Allele Frequency in All Race (ExAC)
- 0.22080088987764182
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