chr12:111803962:G>A Detail (hg38) (ALDH2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr12:112,241,766-112,241,766 View the variant detail on this assembly version. |
| hg38 | chr12:111,803,962-111,803,962 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000690.3:c.1510G>A | NP_000681.2:p.Glu504Lys |
| NM_001204889.1:c.1369G>A | NP_001191818.1:p.Glu457Lys | |
| Ensemble | ENST00000261733.7:c.1510G>A | ENST00000261733.7:p.Glu504Lys |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:0.239 |
| ToMMo:0.195 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.266 |
Prediction
ClinVar
| Clinical Significance |
drug response
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
drug response
|
2021-02-12 | no assertion criteria provided | Alcohol sensitivity, acute |
germline
|
Detail |
protective
|
2010-02-01 | no assertion criteria provided | alcohol dependence |
germline
|
Detail |
risk factor
|
2010-02-01 | no assertion criteria provided | Susceptibility to hangover |
germline
|
Detail |
|
risk factor
|
2010-02-01 | no assertion criteria provided | Sublingual nitroglycerin, susceptibility to poor response to |
germline
|
Detail |
|
risk factor
|
2010-02-01 | no assertion criteria provided | Esophageal cancer, alcohol-related, susceptibility to |
germline
|
Detail |
Pathogenic
|
2010-02-01 | no assertion criteria provided | AMED syndrome, digenic |
germline
|
Detail |
|
drug response
|
2021-03-24 | reviewed by expert panel |
germline
|
Detail |
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 |
| 0.001 | Alcohol abuse | Among conventional markers of alcohol abuse, the mean corpuscular volume (MCV) o... | BeFree | 21917409 | Detail |
| 0.347 | Alcoholic Intoxication, Chronic | Genetic polymorphisms of alcohol dehydrogenase-1B (ADH1B, rs1229984) and aldehyd... | BeFree | 23969552 | Detail |
| 0.471 | Alcoholic Intoxication, Chronic | Genetic polymorphisms of alcohol dehydrogenase-1B (ADH1B, rs1229984) and aldehyd... | BeFree | 23969552 | Detail |
| <0.001 | Squamous cell carcinoma of esophagus | We found significant association with risk of ESCC for four SNPs, including rs14... | BeFree | 23430454 | Detail |
| 0.124 | Squamous cell carcinoma of esophagus | We found significant association with risk of ESCC for four SNPs, including rs14... | BeFree | 23430454 | Detail |
| 0.124 | Squamous cell carcinoma of esophagus | We identified the significant associations of ESCC with 4q21-23 and 12q24 region... | BeFree | 19698717 | Detail |
| 0.026 | Alcohol abuse | Among conventional markers of alcohol abuse, the mean corpuscular volume (MCV) o... | BeFree | 21917409 | Detail |
| 0.126 | Squamous cell carcinoma of esophagus | We found significant association with risk of ESCC for four SNPs, including rs14... | BeFree | 23430454 | Detail |
| <0.001 | Squamous cell carcinoma of esophagus | We found significant association with risk of ESCC for four SNPs, including rs14... | BeFree | 23430454 | Detail |
| 0.028 | Alcohol abuse | Among conventional markers of alcohol abuse, the mean corpuscular volume (MCV) o... | BeFree | 21917409 | Detail |
| 0.013 | Alcohol abuse | Among conventional markers of alcohol abuse, the mean corpuscular volume (MCV) o... | BeFree | 21917409 | Detail |
| 0.126 | Squamous cell carcinoma of esophagus | We identified the significant associations of ESCC with 4q21-23 and 12q24 region... | BeFree | 19698717 | Detail |
| 0.002 | stomach carcinoma | No association was observed between alcohol consumption, ADH1B (rs1229984), ADH1... | BeFree | 25524923 | Detail |
| 0.004 | colorectal carcinoma | A novel polymorphism rs1329149 of CYP2E1 and a known polymorphism rs671 of ALDH2... | BeFree | 19706845 | Detail |
| 0.042 | colorectal cancer | A novel polymorphism rs1329149 of CYP2E1 and a known polymorphism rs671 of ALDH2... | BeFree | 19706845 | Detail |
| 0.004 | colorectal carcinoma | A novel polymorphism rs1329149 of CYP2E1 and a known polymorphism rs671 of ALDH2... | BeFree | 19706845 | Detail |
| 0.025 | colorectal cancer | A novel polymorphism rs1329149 of CYP2E1 and a known polymorphism rs671 of ALDH2... | BeFree | 19706845 | Detail |
| <0.001 | pancreatic carcinoma | The impact of alcohol and polymorphisms in aldehyde dehydrogenase 2 (ALDH2) Glu5... | BeFree | 19068087 | Detail |
| <0.001 | Malignant neoplasm of pancreas | The impact of alcohol and polymorphisms in aldehyde dehydrogenase 2 (ALDH2) Glu5... | BeFree | 19068087 | Detail |
| 0.003 | Malignant neoplasm of pancreas | The impact of alcohol and polymorphisms in aldehyde dehydrogenase 2 (ALDH2) Glu5... | BeFree | 19068087 | Detail |
| <0.001 | pancreatic carcinoma | The impact of alcohol and polymorphisms in aldehyde dehydrogenase 2 (ALDH2) Glu5... | BeFree | 19068087 | Detail |
| <0.001 | Malignant neoplasm of pancreas | The impact of alcohol and polymorphisms in aldehyde dehydrogenase 2 (ALDH2) Glu5... | BeFree | 19068087 | Detail |
| 0.001 | pancreatic carcinoma | The impact of alcohol and polymorphisms in aldehyde dehydrogenase 2 (ALDH2) Glu5... | BeFree | 19068087 | Detail |
| <0.001 | Hepatocarcinogenesis | These included novel SNPs for hepatocarcinogenesis with HCV CCND2 rs1049606, RAD... | BeFree | 22004425 | Detail |
| 0.240 | Alcohol sensitivity, acute | NA | CLINVAR | Detail | |
| 0.007 | coronary artery disease | [In the replication phase, involving 3052 cases and 6335 controls, 12 SNPs were ... | GAD | 21971053 | Detail |
| 0.007 | coronary artery disease | We also highlight and discuss the underlying mechanisms, by which the ALDH2 Glu5... | BeFree | 25263942 | Detail |
| 0.002 | Coronary Arteriosclerosis | The ALDH2 Glu504Lys polymorphism is associated with coronary artery disease in H... | BeFree | 20417517 | Detail |
| 0.129 | Coronary heart disease | Genome-wide association study of coronary artery disease in the Japanese. | GWASCAT | 21971053 | Detail |
| <0.001 | hyperglycemia | Furthermore, the ALDH2 Glu504Lys polymorphism has been shown to be associated wi... | BeFree | 25263942 | Detail |
| 0.007 | coronary artery disease | The ALDH2 Glu504Lys polymorphism is associated with coronary artery disease in H... | BeFree | 20417517 | Detail |
| 0.121 | Cerebrovascular accident | The ALDH2 rs671 polymorphism affects post-stroke epilepsy susceptibility and pla... | BeFree | 25313998 | Detail |
| 0.001 | essential hypertension | Meta-analysis of association between ALDH2 rs671 polymorphism and essential hype... | BeFree | 25403981 | Detail |
| 0.002 | Coronary Arteriosclerosis | The association between the aldehyde dehydrogenase 2 (ALDH2, rs671) genotypes an... | BeFree | 24067347 | Detail |
| 0.471 | Alcoholic Intoxication, Chronic | ALDH2 is associated to alcohol dependence and is the major genetic determinant o... | GWASCAT | 24277619 | Detail |
| 0.120 | Sublingual nitroglycerin, susceptibility to poor response to | NA | CLINVAR | Detail | |
| 0.129 | Coronary heart disease | The ALDH2 Glu504Lys polymorphism is associated with coronary artery disease in H... | BeFree | 20417517 | Detail |
| 0.471 | Alcoholic Intoxication, Chronic | NA | CLINVAR | Detail | |
| 0.007 | coronary artery disease | ALDH2 Glu504Lys polymorphism and susceptibility to coronary artery disease and m... | BeFree | 24333098 | Detail |
| 0.012 | esophageal carcinoma | Our results indicated that the ALDH2 Glu504Lys polymorphism is a susceptible loc... | BeFree | 25680115 | Detail |
| 0.006 | diabetes mellitus | Furthermore, the ALDH2 Glu504Lys polymorphism has been shown to be associated wi... | BeFree | 25263942 | Detail |
| 0.002 | intracranial aneurysm | [Genome-wide association study for intracranial aneurysm in the Japanese populat... | GAD | 22286173 | Detail |
| 0.002 | Coronary Arteriosclerosis | ALDH2 Glu504Lys polymorphism and susceptibility to coronary artery disease and m... | BeFree | 24333098 | Detail |
| <0.001 | Dyslipidemias | Furthermore, the ALDH2 Glu504Lys polymorphism has been shown to be associated wi... | BeFree | 25263942 | Detail |
| <0.001 | Cerebrovascular accident | The ALDH2 rs671 polymorphism affects post-stroke epilepsy susceptibility and pla... | BeFree | 25313998 | Detail |
| 0.157 | Flushing | ALDH2 is strongly associated with flushing response, AD, and maximum drinks in m... | BeFree | 24277619 | Detail |
| 0.012 | myocardial infarction | Emerging evidence has shown that the common rs671 G>A (Glu504Lys) polymorphis... | BeFree | 23697560 | Detail |
| 0.175 | Malignant neoplasm of esophagus | Functional variants in ADH1B and ALDH2 coupled with alcohol and smoking synergis... | GWASCAT | 19698717 | Detail |
| 0.009 | Malignant neoplasm of stomach | The aldehyde dehydrogenase 2 (ALDH2) Glu504Lys polymorphism interacts with alcoh... | BeFree | 23455379 | Detail |
| <0.001 | Malignant neoplasm of liver | This is probably just the tip of the iceberg, since more recent epidemiological ... | BeFree | 25427900 | Detail |
| 0.002 | Malignant neoplasm of esophagus | [Functional variants in ADH1B and ALDH2 coupled with alcohol and smoking synergi... | GAD | 19698717 | Detail |
| 0.120 | HANGOVER, SUSCEPTIBILITY TO (finding) | NA | CLINVAR | Detail | |
| <0.001 | epilepsy | The ALDH2 rs671 polymorphism affects post-stroke epilepsy susceptibility and pla... | BeFree | 25313998 | Detail |
| 0.001 | essential hypertension | Acetaldehyde dehydrogenase 2 SNP rs671 and susceptibility to essential hypertens... | BeFree | 21476199 | Detail |
| 0.129 | Coronary heart disease | ALDH2 Glu504Lys polymorphism and susceptibility to coronary artery disease and m... | BeFree | 24333098 | Detail |
| 0.002 | Coronary Arteriosclerosis | ALDH2 rs671 Polymorphism and coronary heart disease risk among Asian populations... | BeFree | 23697560 | Detail |
| 0.214 | Esophageal Neoplasms | [Functional variants in ADH1B and ALDH2 coupled with alcohol and smoking synergi... | GAD | 19698717 | Detail |
| <0.001 | epilepsy | The ALDH2 rs671 polymorphism affects post-stroke epilepsy susceptibility and pla... | BeFree | 25313998 | Detail |
| 0.157 | Flushing | Comparison between self-reported facial flushing after alcohol consumption and A... | BeFree | 20518787 | Detail |
| 0.004 | stomach carcinoma | The aldehyde dehydrogenase 2 (ALDH2) Glu504Lys polymorphism interacts with alcoh... | BeFree | 23455379 | Detail |
| 0.214 | Esophageal Neoplasms | Our results indicated that the ALDH2 Glu504Lys polymorphism is a susceptible loc... | BeFree | 25680115 | Detail |
| 0.129 | Coronary heart disease | We genotyped rs671 of ALDH2 in 96 coronary heart disease (CHD) patients with fou... | BeFree | 25803854 | Detail |
| 0.012 | myocardial infarction | ALDH2 Glu504Lys polymorphism and susceptibility to coronary artery disease and m... | BeFree | 24333098 | Detail |
| 0.129 | Coronary heart disease | ALDH2 rs671 Polymorphism and coronary heart disease risk among Asian populations... | BeFree | 23697560 | Detail |
| 0.001 | Squamous cell carcinoma of the head and neck | ALDH2 1510 G/A (Glu487Lys) polymorphism interaction with age in head and neck sq... | BeFree | 17033202 | Detail |
| 0.007 | coronary artery disease | The association between the aldehyde dehydrogenase 2 (ALDH2, rs671) genotypes an... | BeFree | 24067347 | Detail |
| 0.175 | Malignant neoplasm of esophagus | Our results indicated that the ALDH2 Glu504Lys polymorphism is a susceptible loc... | BeFree | 25680115 | Detail |
| 0.002 | Kidney Failure, Chronic | [Influence of ALDH2 genetic polymorphisms on aciclovir pharmacokinetics followin... | GAD | 18974607 | Detail |
| 0.129 | Coronary heart disease | The association between the aldehyde dehydrogenase 2 (ALDH2, rs671) genotypes an... | BeFree | 24067347 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000690.4(ALDH2):c.1510G>A (p.Glu504Lys) AND Alcohol sensitivity, acute | ClinVar | Detail |
| NM_000690.4(ALDH2):c.1510G>A (p.Glu504Lys) AND Alcohol dependence | ClinVar | Detail |
| NM_000690.4(ALDH2):c.1510G>A (p.Glu504Lys) AND Susceptibility to hangover | ClinVar | Detail |
| NM_000690.4(ALDH2):c.1510G>A (p.Glu504Lys) AND Sublingual nitroglycerin, susceptibility to poor resp... | ClinVar | Detail |
| NM_000690.4(ALDH2):c.1510G>A (p.Glu504Lys) AND Esophageal cancer, alcohol-related, susceptibility to | ClinVar | Detail |
| NM_000690.4(ALDH2):c.1510G>A (p.Glu504Lys) AND AMED syndrome, digenic | ClinVar | Detail |
| NM_000690.4(ALDH2):c.1510G>A (p.Glu504Lys) AND ethanol response - Toxicity | ClinVar | Detail |
| No association was observed between alcohol consumption, ADH1B (rs1229984), ADH1C (rs698) and ALDH2 ... | DisGeNET | Detail |
| Among conventional markers of alcohol abuse, the mean corpuscular volume (MCV) of erythrocytes is pr... | DisGeNET | Detail |
| Genetic polymorphisms of alcohol dehydrogenase-1B (ADH1B, rs1229984) and aldehyde dehydrogenase-2 (A... | DisGeNET | Detail |
| Genetic polymorphisms of alcohol dehydrogenase-1B (ADH1B, rs1229984) and aldehyde dehydrogenase-2 (A... | DisGeNET | Detail |
| We found significant association with risk of ESCC for four SNPs, including rs1494961 in HEL308 at 4... | DisGeNET | Detail |
| We found significant association with risk of ESCC for four SNPs, including rs1494961 in HEL308 at 4... | DisGeNET | Detail |
| We identified the significant associations of ESCC with 4q21-23 and 12q24 regions, which include non... | DisGeNET | Detail |
| Among conventional markers of alcohol abuse, the mean corpuscular volume (MCV) of erythrocytes is pr... | DisGeNET | Detail |
| We found significant association with risk of ESCC for four SNPs, including rs1494961 in HEL308 at 4... | DisGeNET | Detail |
| We found significant association with risk of ESCC for four SNPs, including rs1494961 in HEL308 at 4... | DisGeNET | Detail |
| Among conventional markers of alcohol abuse, the mean corpuscular volume (MCV) of erythrocytes is pr... | DisGeNET | Detail |
| Among conventional markers of alcohol abuse, the mean corpuscular volume (MCV) of erythrocytes is pr... | DisGeNET | Detail |
| We identified the significant associations of ESCC with 4q21-23 and 12q24 regions, which include non... | DisGeNET | Detail |
| No association was observed between alcohol consumption, ADH1B (rs1229984), ADH1C (rs698) and ALDH2 ... | DisGeNET | Detail |
| A novel polymorphism rs1329149 of CYP2E1 and a known polymorphism rs671 of ALDH2 of alcohol metaboli... | DisGeNET | Detail |
| A novel polymorphism rs1329149 of CYP2E1 and a known polymorphism rs671 of ALDH2 of alcohol metaboli... | DisGeNET | Detail |
| A novel polymorphism rs1329149 of CYP2E1 and a known polymorphism rs671 of ALDH2 of alcohol metaboli... | DisGeNET | Detail |
| A novel polymorphism rs1329149 of CYP2E1 and a known polymorphism rs671 of ALDH2 of alcohol metaboli... | DisGeNET | Detail |
| The impact of alcohol and polymorphisms in aldehyde dehydrogenase 2 (ALDH2) Glu504Lys, alcohol dehyd... | DisGeNET | Detail |
| The impact of alcohol and polymorphisms in aldehyde dehydrogenase 2 (ALDH2) Glu504Lys, alcohol dehyd... | DisGeNET | Detail |
| The impact of alcohol and polymorphisms in aldehyde dehydrogenase 2 (ALDH2) Glu504Lys, alcohol dehyd... | DisGeNET | Detail |
| The impact of alcohol and polymorphisms in aldehyde dehydrogenase 2 (ALDH2) Glu504Lys, alcohol dehyd... | DisGeNET | Detail |
| The impact of alcohol and polymorphisms in aldehyde dehydrogenase 2 (ALDH2) Glu504Lys, alcohol dehyd... | DisGeNET | Detail |
| The impact of alcohol and polymorphisms in aldehyde dehydrogenase 2 (ALDH2) Glu504Lys, alcohol dehyd... | DisGeNET | Detail |
| These included novel SNPs for hepatocarcinogenesis with HCV CCND2 rs1049606, RAD23B rs1805329, CEP16... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| [In the replication phase, involving 3052 cases and 6335 controls, 12 SNPs were tested; CAD associat... | DisGeNET | Detail |
| We also highlight and discuss the underlying mechanisms, by which the ALDH2 Glu504Lys polymorphism m... | DisGeNET | Detail |
| The ALDH2 Glu504Lys polymorphism is associated with coronary artery disease in Han Chinese: Relation... | DisGeNET | Detail |
| Genome-wide association study of coronary artery disease in the Japanese. | DisGeNET | Detail |
| Furthermore, the ALDH2 Glu504Lys polymorphism has been shown to be associated with certain tradition... | DisGeNET | Detail |
| The ALDH2 Glu504Lys polymorphism is associated with coronary artery disease in Han Chinese: Relation... | DisGeNET | Detail |
| The ALDH2 rs671 polymorphism affects post-stroke epilepsy susceptibility and plasma 4-HNE levels. | DisGeNET | Detail |
| Meta-analysis of association between ALDH2 rs671 polymorphism and essential hypertension in Asian po... | DisGeNET | Detail |
| The association between the aldehyde dehydrogenase 2 (ALDH2, rs671) genotypes and the estimated glom... | DisGeNET | Detail |
| ALDH2 is associated to alcohol dependence and is the major genetic determinant of daily maximum drin... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| The ALDH2 Glu504Lys polymorphism is associated with coronary artery disease in Han Chinese: Relation... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| ALDH2 Glu504Lys polymorphism and susceptibility to coronary artery disease and myocardial infarction... | DisGeNET | Detail |
| Our results indicated that the ALDH2 Glu504Lys polymorphism is a susceptible loci associated with ov... | DisGeNET | Detail |
| Furthermore, the ALDH2 Glu504Lys polymorphism has been shown to be associated with certain tradition... | DisGeNET | Detail |
| [Genome-wide association study for intracranial aneurysm in the Japanese population identifies three... | DisGeNET | Detail |
| ALDH2 Glu504Lys polymorphism and susceptibility to coronary artery disease and myocardial infarction... | DisGeNET | Detail |
| Furthermore, the ALDH2 Glu504Lys polymorphism has been shown to be associated with certain tradition... | DisGeNET | Detail |
| The ALDH2 rs671 polymorphism affects post-stroke epilepsy susceptibility and plasma 4-HNE levels. | DisGeNET | Detail |
| ALDH2 is strongly associated with flushing response, AD, and maximum drinks in males, with nonsynony... | DisGeNET | Detail |
| Emerging evidence has shown that the common rs671 G>A (Glu504Lys) polymorphism in the ALDH2 gene ... | DisGeNET | Detail |
| Functional variants in ADH1B and ALDH2 coupled with alcohol and smoking synergistically enhance esop... | DisGeNET | Detail |
| The aldehyde dehydrogenase 2 (ALDH2) Glu504Lys polymorphism interacts with alcohol drinking in the r... | DisGeNET | Detail |
| This is probably just the tip of the iceberg, since more recent epidemiological studies have also sh... | DisGeNET | Detail |
| [Functional variants in ADH1B and ALDH2 coupled with alcohol and smoking synergistically enhance eso... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| The ALDH2 rs671 polymorphism affects post-stroke epilepsy susceptibility and plasma 4-HNE levels. | DisGeNET | Detail |
| Acetaldehyde dehydrogenase 2 SNP rs671 and susceptibility to essential hypertension in Mongolians: a... | DisGeNET | Detail |
| ALDH2 Glu504Lys polymorphism and susceptibility to coronary artery disease and myocardial infarction... | DisGeNET | Detail |
| ALDH2 rs671 Polymorphism and coronary heart disease risk among Asian populations: a meta-analysis an... | DisGeNET | Detail |
| [Functional variants in ADH1B and ALDH2 coupled with alcohol and smoking synergistically enhance eso... | DisGeNET | Detail |
| The ALDH2 rs671 polymorphism affects post-stroke epilepsy susceptibility and plasma 4-HNE levels. | DisGeNET | Detail |
| Comparison between self-reported facial flushing after alcohol consumption and ALDH2 Glu504Lys polym... | DisGeNET | Detail |
| The aldehyde dehydrogenase 2 (ALDH2) Glu504Lys polymorphism interacts with alcohol drinking in the r... | DisGeNET | Detail |
| Our results indicated that the ALDH2 Glu504Lys polymorphism is a susceptible loci associated with ov... | DisGeNET | Detail |
| We genotyped rs671 of ALDH2 in 96 coronary heart disease (CHD) patients with four methods including ... | DisGeNET | Detail |
| ALDH2 Glu504Lys polymorphism and susceptibility to coronary artery disease and myocardial infarction... | DisGeNET | Detail |
| ALDH2 rs671 Polymorphism and coronary heart disease risk among Asian populations: a meta-analysis an... | DisGeNET | Detail |
| ALDH2 1510 G/A (Glu487Lys) polymorphism interaction with age in head and neck squamous cell carcinom... | DisGeNET | Detail |
| The association between the aldehyde dehydrogenase 2 (ALDH2, rs671) genotypes and the estimated glom... | DisGeNET | Detail |
| Our results indicated that the ALDH2 Glu504Lys polymorphism is a susceptible loci associated with ov... | DisGeNET | Detail |
| [Influence of ALDH2 genetic polymorphisms on aciclovir pharmacokinetics following oral administratio... | DisGeNET | Detail |
| The association between the aldehyde dehydrogenase 2 (ALDH2, rs671) genotypes and the estimated glom... | 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
- rs671 dbSNP
- Genome
- hg38
- Position
- chr12:111,803,962-111,803,962
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 945
- Mean of sample read depth (HGVD)
- 20.94
- Standard deviation of sample read depth (HGVD)
- 8.87
- Number of reference allele (HGVD)
- 1439
- Number of alternative allele (HGVD)
- 451
- Allele Frequency (HGVD)
- 0.23862433862433863
- Gene Symbol (HGVD)
- ALDH2
- 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))
- rs671
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.195
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 3268
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 6992
- East Asian Allele Counts (ExAC)
- 1860
- East Asian Heterozygous Counts (ExAC)
- 1432
- East Asian Homozygous Counts (ExAC)
- 214
- East Asian Allele Frequency (ExAC)
- 0.2660183066361556
- Chromosome Counts in All Race (ExAC)
- 88224
- Allele Counts in All Race (ExAC)
- 1878
- Heterozygous Counts in All Race (ExAC)
- 1450
- Homozygous Counts in All Race (ExAC)
- 214
- Allele Frequency in All Race (ExAC)
- 0.0212867247007617
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