chr8:11770112:G>C Detail (hg38) (NEIL2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr8:11,627,621-11,627,621 View the variant detail on this assembly version. |
| hg38 | chr8:11,770,112-11,770,112 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_145043.2:c.-226G>C | |
| NM_001135747.1:c.-46+321G>C | ||
| NM_001135746.1:c.-3+321G>C |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.742 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:[No Data.] |
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 |
|---|---|---|---|---|---|
| 0.008 | Malignant neoplasm of stomach | In conclusion, variant alleles in the NEIL2 (rs804270), APE1 (rs2275008), CYP2E1... | BeFree | 26373042 | 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 |
| 0.001 | 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 |
| <0.001 | 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 |
| 0.017 | stomach carcinoma | Genetic Variation of BCL2 (rs2279115), NEIL2 (rs804270), LTA (rs909253), PSCA (r... | BeFree | 26554163 | Detail |
| 0.015 | Malignant neoplasm of stomach | Genetic Variation of BCL2 (rs2279115), NEIL2 (rs804270), LTA (rs909253), PSCA (r... | BeFree | 26554163 | Detail |
| 0.010 | Malignant neoplasm of stomach | Genetic Variation of BCL2 (rs2279115), NEIL2 (rs804270), LTA (rs909253), PSCA (r... | BeFree | 26554163 | Detail |
| 0.124 | Malignant neoplasm of stomach | Genetic Variation of BCL2 (rs2279115), NEIL2 (rs804270), LTA (rs909253), PSCA (r... | BeFree | 26554163 | Detail |
| <0.001 | Malignant neoplasm of stomach | Genetic Variation of BCL2 (rs2279115), NEIL2 (rs804270), LTA (rs909253), PSCA (r... | BeFree | 26554163 | Detail |
| 0.010 | stomach carcinoma | Genetic Variation of BCL2 (rs2279115), NEIL2 (rs804270), LTA (rs909253), PSCA (r... | BeFree | 26554163 | Detail |
| <0.001 | stomach carcinoma | Genetic Variation of BCL2 (rs2279115), NEIL2 (rs804270), LTA (rs909253), PSCA (r... | BeFree | 26554163 | Detail |
| 0.004 | stomach carcinoma | Genetic Variation of BCL2 (rs2279115), NEIL2 (rs804270), LTA (rs909253), PSCA (r... | BeFree | 26554163 | Detail |
| 0.005 | squamous cell carcinoma | Genotype and haplotypes of the NEIL1 NT_010194.16:g.46434077G>T (rs7182283) a... | BeFree | 18594018 | Detail |
| 0.005 | squamous cell carcinoma | Genotype and haplotypes of the NEIL1 NT_010194.16:g.46434077G>T (rs7182283) a... | BeFree | 18594018 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| 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 |
| 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 |
| 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 |
| Genetic Variation of BCL2 (rs2279115), NEIL2 (rs804270), LTA (rs909253), PSCA (rs2294008) and PLCE1 ... | DisGeNET | Detail |
| Genetic Variation of BCL2 (rs2279115), NEIL2 (rs804270), LTA (rs909253), PSCA (rs2294008) and PLCE1 ... | DisGeNET | Detail |
| Genetic Variation of BCL2 (rs2279115), NEIL2 (rs804270), LTA (rs909253), PSCA (rs2294008) and PLCE1 ... | DisGeNET | Detail |
| Genetic Variation of BCL2 (rs2279115), NEIL2 (rs804270), LTA (rs909253), PSCA (rs2294008) and PLCE1 ... | DisGeNET | Detail |
| Genetic Variation of BCL2 (rs2279115), NEIL2 (rs804270), LTA (rs909253), PSCA (rs2294008) and PLCE1 ... | DisGeNET | Detail |
| Genetic Variation of BCL2 (rs2279115), NEIL2 (rs804270), LTA (rs909253), PSCA (rs2294008) and PLCE1 ... | DisGeNET | Detail |
| Genetic Variation of BCL2 (rs2279115), NEIL2 (rs804270), LTA (rs909253), PSCA (rs2294008) and PLCE1 ... | DisGeNET | Detail |
| Genetic Variation of BCL2 (rs2279115), NEIL2 (rs804270), LTA (rs909253), PSCA (rs2294008) and PLCE1 ... | DisGeNET | Detail |
| Genotype and haplotypes of the NEIL1 NT_010194.16:g.46434077G>T (rs7182283) and g.46438282C>G ... | DisGeNET | Detail |
| Genotype and haplotypes of the NEIL1 NT_010194.16:g.46434077G>T (rs7182283) and g.46438282C>G ... | 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
- rs804270 dbSNP
- Genome
- hg38
- Position
- chr8:11,770,112-11,770,112
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- C
- 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))
- rs804270
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.7424
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 12442
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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