chr10:135339845:C>T Detail (hg19) (CYP2E1, LOC110599585)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr10:135,339,845-135,339,845 |
| hg38 | chr10:133,526,341-133,526,341 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | ||
| Ensemble | ENST00000463117.6:c.-117-455C>T |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.210 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:[No Data.] |
Prediction
ClinVar
| Clinical Significance | no classification for the single variant |
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
other
|
2016-04-20 | no assertion criteria provided |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.005 | Lip and oral cavity carcinoma | GSTT1 null and rs1695 were inversely associated with oral leukoplakia while GSTM... | BeFree | 21741876 | Detail |
| 0.005 | Malignant neoplasm of mouth | GSTT1 null and rs1695 were inversely associated with oral leukoplakia while GSTM... | BeFree | 21741876 | Detail |
| 0.002 | Lip and oral cavity carcinoma | GSTT1 null and rs1695 were inversely associated with oral leukoplakia while GSTM... | BeFree | 21741876 | Detail |
| 0.008 | Lip and oral cavity carcinoma | GSTT1 null and rs1695 were inversely associated with oral leukoplakia while GSTM... | BeFree | 21741876 | Detail |
| 0.011 | Leukoplakia, Oral | GSTT1 null and rs1695 were inversely associated with oral leukoplakia while GSTM... | BeFree | 21741876 | Detail |
| 0.006 | Leukoplakia, Oral | GSTT1 null and rs1695 were inversely associated with oral leukoplakia while GSTM... | BeFree | 21741876 | Detail |
| 0.012 | Malignant neoplasm of mouth | GSTT1 null and rs1695 were inversely associated with oral leukoplakia while GSTM... | BeFree | 21741876 | Detail |
| 0.016 | Malignant neoplasm of mouth | GSTT1 null and rs1695 were inversely associated with oral leukoplakia while GSTM... | BeFree | 21741876 | Detail |
| 0.013 | Carcinoma of bladder | Associations between THMs and bladder cancer were stronger among subjects who we... | BeFree | 20675267 | Detail |
| 0.093 | Malignant neoplasm of urinary bladder | Associations between THMs and bladder cancer were stronger among subjects who we... | BeFree | 20675267 | Detail |
| 0.008 | Malignant neoplasm of stomach | In conclusion, variant alleles in the NEIL2 (rs804270), APE1 (rs2275008), CYP2E1... | BeFree | 26373042 | Detail |
| 0.042 | colorectal cancer | Associations of CYP2E1 rs2031920 and rs3813867 polymorphisms with colorectal can... | BeFree | 23595220 | Detail |
| <0.001 | stomach carcinoma | In conclusion, variant alleles in the NEIL2 (rs804270), APE1 (rs2275008), CYP2E1... | BeFree | 26373042 | Detail |
| 0.006 | stomach carcinoma | In conclusion, variant alleles in the NEIL2 (rs804270), APE1 (rs2275008), CYP2E1... | BeFree | 26373042 | Detail |
| 0.004 | colorectal carcinoma | Associations of CYP2E1 rs2031920 and rs3813867 polymorphisms with colorectal can... | BeFree | 23595220 | Detail |
| 0.001 | stomach carcinoma | Risk analysis revealed that there was increased risk for gastric cancer in subje... | BeFree | 26373042 | Detail |
| 0.002 | Malignant neoplasm of stomach | In conclusion, variant alleles in the NEIL2 (rs804270), APE1 (rs2275008), CYP2E1... | BeFree | 26373042 | Detail |
| 0.019 | Malignant neoplasm of stomach | In conclusion, variant alleles in the NEIL2 (rs804270), APE1 (rs2275008), CYP2E1... | BeFree | 26373042 | Detail |
| 0.005 | stomach carcinoma | In conclusion, variant alleles in the NEIL2 (rs804270), APE1 (rs2275008), CYP2E1... | BeFree | 26373042 | Detail |
| 0.055 | Malignant neoplasm of lung | [When numeric scores were assigned to both the SNP and demographic data, and seq... | GAD | 19789190 | Detail |
| <0.001 | Malignant neoplasm of stomach | Risk analysis revealed that there was increased risk for gastric cancer in subje... | BeFree | 26373042 | Detail |
| 0.002 | stomach carcinoma | In conclusion, variant alleles in the NEIL2 (rs804270), APE1 (rs2275008), CYP2E1... | BeFree | 26373042 | Detail |
| <0.001 | Malignant neoplasm of stomach | In conclusion, variant alleles in the NEIL2 (rs804270), APE1 (rs2275008), CYP2E1... | BeFree | 26373042 | Detail |
| 0.006 | Leukoplakia | We examined the association of 13 variants in eight genes (rs4646903, rs2031920,... | BeFree | 21741876 | Detail |
| 0.006 | Leukoplakia | We examined the association of 13 variants in eight genes (rs4646903, rs2031920,... | BeFree | 21741876 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| CYP2E1*5B AND CYP2E1*5B ALLELE | ClinVar | Detail |
| GSTT1 null and rs1695 were inversely associated with oral leukoplakia while GSTM1 null, GSTT1 null, ... | DisGeNET | Detail |
| GSTT1 null and rs1695 were inversely associated with oral leukoplakia while GSTM1 null, GSTT1 null, ... | DisGeNET | Detail |
| GSTT1 null and rs1695 were inversely associated with oral leukoplakia while GSTM1 null, GSTT1 null, ... | DisGeNET | Detail |
| GSTT1 null and rs1695 were inversely associated with oral leukoplakia while GSTM1 null, GSTT1 null, ... | DisGeNET | Detail |
| GSTT1 null and rs1695 were inversely associated with oral leukoplakia while GSTM1 null, GSTT1 null, ... | DisGeNET | Detail |
| GSTT1 null and rs1695 were inversely associated with oral leukoplakia while GSTM1 null, GSTT1 null, ... | DisGeNET | Detail |
| GSTT1 null and rs1695 were inversely associated with oral leukoplakia while GSTM1 null, GSTT1 null, ... | DisGeNET | Detail |
| GSTT1 null and rs1695 were inversely associated with oral leukoplakia while GSTM1 null, GSTT1 null, ... | DisGeNET | Detail |
| Associations between THMs and bladder cancer were stronger among subjects who were GSTT1 +/+ or +/- ... | DisGeNET | Detail |
| Associations between THMs and bladder cancer were stronger among subjects who were GSTT1 +/+ or +/- ... | DisGeNET | Detail |
| In conclusion, variant alleles in the NEIL2 (rs804270), APE1 (rs2275008), CYP2E1 (rs2031920) and MDM... | DisGeNET | Detail |
| Associations of CYP2E1 rs2031920 and rs3813867 polymorphisms with colorectal cancer risk: a systemic... | DisGeNET | Detail |
| In conclusion, variant alleles in the NEIL2 (rs804270), APE1 (rs2275008), CYP2E1 (rs2031920) and MDM... | DisGeNET | Detail |
| In conclusion, variant alleles in the NEIL2 (rs804270), APE1 (rs2275008), CYP2E1 (rs2031920) and MDM... | DisGeNET | Detail |
| Associations of CYP2E1 rs2031920 and rs3813867 polymorphisms with colorectal cancer risk: a systemic... | DisGeNET | Detail |
| Risk analysis revealed that there was increased risk for gastric cancer in subjects with mutant alle... | DisGeNET | Detail |
| In conclusion, variant alleles in the NEIL2 (rs804270), APE1 (rs2275008), CYP2E1 (rs2031920) and MDM... | DisGeNET | Detail |
| In conclusion, variant alleles in the NEIL2 (rs804270), APE1 (rs2275008), CYP2E1 (rs2031920) and MDM... | DisGeNET | Detail |
| In conclusion, variant alleles in the NEIL2 (rs804270), APE1 (rs2275008), CYP2E1 (rs2031920) and MDM... | DisGeNET | Detail |
| [When numeric scores were assigned to both the SNP and demographic data, and sequentially combined b... | DisGeNET | Detail |
| Risk analysis revealed that there was increased risk for gastric cancer in subjects with mutant alle... | DisGeNET | Detail |
| In conclusion, variant alleles in the NEIL2 (rs804270), APE1 (rs2275008), CYP2E1 (rs2031920) and MDM... | DisGeNET | Detail |
| In conclusion, variant alleles in the NEIL2 (rs804270), APE1 (rs2275008), CYP2E1 (rs2031920) and MDM... | DisGeNET | Detail |
| We examined the association of 13 variants in eight genes (rs4646903, rs2031920, rs3813867, GSTM1 nu... | DisGeNET | Detail |
| We examined the association of 13 variants in eight genes (rs4646903, rs2031920, rs3813867, GSTM1 nu... | DisGeNET | Detail |
| Non melanoma specific model (ovarian cancer) | MMMP | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs2031920 dbSNP
- Genome
- hg19
- Position
- chr10:135,339,845-135,339,845
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- 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))
- rs2031920
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.2098
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 3517
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- MMMP State (molecule) (MMMP)
- polymorphism rs2031920
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