chr4:100260789:T>A Detail (hg19) (ADH1C)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr4:100,260,789-100,260,789 |
| hg38 | chr4:99,339,632-99,339,632 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000669.4:c.1048A>T | NP_000660.1:p.Ile350Phe |
| NR_133005.1:c.1048A>T | ||
| Ensemble | ENST00000515683.6:c.1048A>T | ENST00000515683.6:p.Ile350Phe |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.004 | Malignant neoplasm of stomach | No association was observed between alcohol consumption, ADH1B (rs1229984), ADH1... | BeFree | 25524923 | Detail |
| 0.013 | Cancer of Head and Neck | An increased risk for HNC was also associated reported for P53 codon 72 Pro/Pro,... | BeFree | 22500060 | Detail |
| 0.001 | Alcohol abuse | Among conventional markers of alcohol abuse, the mean corpuscular volume (MCV) o... | BeFree | 21917409 | Detail |
| <0.001 | nicotine dependence | We investigated six variants known to influence nicotine addiction or alcohol me... | BeFree | 24505444 | Detail |
| 0.133 | nicotine dependence | We investigated six variants known to influence nicotine addiction or alcohol me... | BeFree | 24505444 | Detail |
| 0.004 | Cancer of Head and Neck | An increased risk for HNC was also associated reported for P53 codon 72 Pro/Pro,... | BeFree | 22500060 | Detail |
| 0.026 | Alcohol abuse | Among conventional markers of alcohol abuse, the mean corpuscular volume (MCV) o... | BeFree | 21917409 | Detail |
| 0.007 | Cancer of Head and Neck | An increased risk for HNC was also associated reported for P53 codon 72 Pro/Pro,... | BeFree | 22500060 | Detail |
| 0.003 | Malignant neoplasm of pancreas | Based on the assumption that genetic variation in carcinogen metabolism further ... | BeFree | 19812523 | Detail |
| <0.001 | nicotine dependence | We investigated six variants known to influence nicotine addiction or alcohol me... | BeFree | 24505444 | Detail |
| 0.033 | Cancer of Head and Neck | An increased risk for HNC was also associated reported for P53 codon 72 Pro/Pro,... | BeFree | 22500060 | Detail |
| <0.001 | nicotine dependence | We investigated six variants known to influence nicotine addiction or alcohol me... | BeFree | 24505444 | Detail |
| 0.028 | Alcohol abuse | Among conventional markers of alcohol abuse, the mean corpuscular volume (MCV) o... | BeFree | 21917409 | Detail |
| <0.001 | pancreatic carcinoma | Based on the assumption that genetic variation in carcinogen metabolism further ... | BeFree | 19812523 | Detail |
| 0.013 | Alcohol abuse | Among conventional markers of alcohol abuse, the mean corpuscular volume (MCV) o... | BeFree | 21917409 | Detail |
| <0.001 | Cancer of Head and Neck | An increased risk for HNC was also associated reported for P53 codon 72 Pro/Pro,... | BeFree | 22500060 | Detail |
| 0.020 | nicotine dependence | We investigated six variants known to influence nicotine addiction or alcohol me... | BeFree | 24505444 | Detail |
| <0.001 | nicotine dependence | We investigated six variants known to influence nicotine addiction or alcohol me... | BeFree | 24505444 | Detail |
| 0.004 | Liver diseases | The aim of this study was to analyze the combined effect of the most frequent al... | BeFree | 22048268 | Detail |
| 0.002 | stomach carcinoma | No association was observed between alcohol consumption, ADH1B (rs1229984), ADH1... | BeFree | 25524923 | Detail |
| <0.001 | Drug abuse | The results showed strong evidence of association between ADH1C Ile350Val (rs698... | BeFree | 22476623 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| No association was observed between alcohol consumption, ADH1B (rs1229984), ADH1C (rs698) and ALDH2 ... | DisGeNET | Detail |
| An increased risk for HNC was also associated reported for P53 codon 72 Pro/Pro, ALDH2 and three var... | DisGeNET | Detail |
| Among conventional markers of alcohol abuse, the mean corpuscular volume (MCV) of erythrocytes is pr... | DisGeNET | Detail |
| We investigated six variants known to influence nicotine addiction or alcohol metabolism, including ... | DisGeNET | Detail |
| We investigated six variants known to influence nicotine addiction or alcohol metabolism, including ... | DisGeNET | Detail |
| An increased risk for HNC was also associated reported for P53 codon 72 Pro/Pro, ALDH2 and three var... | DisGeNET | Detail |
| Among conventional markers of alcohol abuse, the mean corpuscular volume (MCV) of erythrocytes is pr... | DisGeNET | Detail |
| An increased risk for HNC was also associated reported for P53 codon 72 Pro/Pro, ALDH2 and three var... | DisGeNET | Detail |
| Based on the assumption that genetic variation in carcinogen metabolism further modifies the risk of... | DisGeNET | Detail |
| We investigated six variants known to influence nicotine addiction or alcohol metabolism, including ... | DisGeNET | Detail |
| An increased risk for HNC was also associated reported for P53 codon 72 Pro/Pro, ALDH2 and three var... | DisGeNET | Detail |
| We investigated six variants known to influence nicotine addiction or alcohol metabolism, including ... | DisGeNET | Detail |
| Among conventional markers of alcohol abuse, the mean corpuscular volume (MCV) of erythrocytes is pr... | DisGeNET | Detail |
| Based on the assumption that genetic variation in carcinogen metabolism further modifies the risk of... | DisGeNET | Detail |
| Among conventional markers of alcohol abuse, the mean corpuscular volume (MCV) of erythrocytes is pr... | DisGeNET | Detail |
| An increased risk for HNC was also associated reported for P53 codon 72 Pro/Pro, ALDH2 and three var... | DisGeNET | Detail |
| We investigated six variants known to influence nicotine addiction or alcohol metabolism, including ... | DisGeNET | Detail |
| We investigated six variants known to influence nicotine addiction or alcohol metabolism, including ... | DisGeNET | Detail |
| The aim of this study was to analyze the combined effect of the most frequent alcohol dehydrogenase ... | DisGeNET | Detail |
| No association was observed between alcohol consumption, ADH1B (rs1229984), ADH1C (rs698) and ALDH2 ... | DisGeNET | Detail |
| The results showed strong evidence of association between ADH1C Ile350Val (rs698, formerly ADH1C *1/... | 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
- rs698 dbSNP
- Genome
- hg19
- Position
- chr4:100,260,789-100,260,789
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- A
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