chr4:2906707:G>T Detail (hg19) (ADD1)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr4:2,906,707-2,906,707 |
hg38 | chr4:2,904,980-2,904,980 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_014189.3:c.1378G>T | NP_054908.2:p.Gly460Trp |
NM_001119.4:c.1378G>T | NP_001110.2:p.Gly460Trp | |
Ensemble | ENST00000264758.11:c.1378G>T | ENST00000264758.11:p.Gly460Trp |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:0.567 |
ToMMo:0.545 | |
NCBN:[No Data.] | |
NCBN(Hondo):[No Data.] | |
NCBN(Ryukyu):[No Data.] | |
East asia | ExAC:0.476 |
Prediction
ClinVar
Clinical Significance |
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Review star | ![]() |
Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.321 | Hypertensive disease | In this study, 3 physiologically important candidate gene mutations (angiotensin... | BeFree | 10856280 | Detail |
0.239 | Hypertensive disease | In this study, 3 physiologically important candidate gene mutations (angiotensin... | BeFree | 10856280 | Detail |
0.440 | Hypertensive disease | In this study, 3 physiologically important candidate gene mutations (angiotensin... | BeFree | 10856280 | Detail |
0.003 | gastroschisis | In logistic regression, controlling for maternal ethnicity, and using the homozy... | BeFree | 17051589 | Detail |
0.003 | gastroschisis | In logistic regression, controlling for maternal ethnicity, and using the homozy... | BeFree | 17051589 | Detail |
0.003 | gastroschisis | In logistic regression, controlling for maternal ethnicity, and using the homozy... | BeFree | 17051589 | Detail |
0.003 | gastroschisis | In logistic regression, controlling for maternal ethnicity, and using the homozy... | BeFree | 17051589 | Detail |
0.321 | Hypertensive disease | The ACE I/D, alpha-adducin Gly460Trp and aldosterone synthase -344C/T polymorphi... | BeFree | 15097233 | Detail |
0.143 | Hypertensive disease | The ACE I/D, alpha-adducin Gly460Trp and aldosterone synthase -344C/T polymorphi... | BeFree | 15097233 | Detail |
0.440 | Hypertensive disease | In a prospective analysis of a Caucasian population, we recently found that the ... | BeFree | 15097233 | Detail |
0.019 | myocardial infarction | This study investigates whether the interaction between diuretics and alpha-addu... | BeFree | 17189961 | Detail |
0.017 | myocardial infarction | This study investigates whether the interaction between diuretics and alpha-addu... | BeFree | 17189961 | Detail |
0.017 | Cerebrovascular accident | This study investigates whether the interaction between diuretics and alpha-addu... | BeFree | 17189961 | Detail |
0.321 | Hypertensive disease | In the present study, we investigated the association between Gly460Trp polymorp... | BeFree | 9582105 | Detail |
0.321 | Hypertensive disease | Alpha-adducin Gly460Trp polymorphism and hypertension risk: a meta-analysis of 2... | BeFree | 20927398 | Detail |
0.025 | kidney failure | In this large series of ADPKD patients, we found no effect of the ACE (I/D) poly... | BeFree | 13679477 | Detail |
0.013 | Cardiovascular Diseases | Women with the Trp/Trp genotype of alpha-adducin Gly460Trp might have increased ... | BeFree | 15493144 | Detail |
0.321 | Hypertensive disease | Genetic variability in the ADD1 (Gly460Trp) and ADD2 (C1797T) subunits of the cy... | BeFree | 17301826 | Detail |
0.321 | Hypertensive disease | Previous studies have shown an association between the alpha-adducin Gly460Trp p... | BeFree | 15326084 | Detail |
0.003 | renal hypertension | In a Caucasian population, the prevalence and incidence of hypertension, renal f... | BeFree | 12172317 | Detail |
<0.001 | renal hypertension | In a Caucasian population, the prevalence and incidence of hypertension, renal f... | BeFree | 12172317 | Detail |
0.017 | myocardial infarction | Interaction between the Gly460Trp alpha-adducin gene variant and diuretics on th... | BeFree | 19145769 | Detail |
0.321 | Hypertensive disease | ADD1 Gly460Trp polymorphism is associated with salt-sensitive hypertension and i... | BeFree | 18667944 | Detail |
<0.001 | arteriosclerosis | For this reason, we examined the association between the alpha-adducin (ADD1) G4... | BeFree | 12052841 | Detail |
0.001 | essential hypertension | A Gly460Trp variant of the cytoskeletal protein alpha-adducin has recently been ... | BeFree | 10371374 | Detail |
0.010 | renal hypertension | In a Caucasian population, the prevalence and incidence of hypertension, renal f... | BeFree | 12172317 | Detail |
0.321 | Hypertensive disease | Hence, no evidence was found to suggest an association between either the alpha-... | BeFree | 11116113 | Detail |
0.321 | Hypertensive disease | We recently found that femoral intima media thickness, as well as the incidence ... | BeFree | 11728946 | Detail |
0.011 | atherosclerosis | For this reason, we examined the association between the alpha-adducin (ADD1) G4... | BeFree | 12052841 | Detail |
<0.001 | Hypernatremia | The Gly460Trp variant of the alpha-adducin gene has been associated with renal s... | BeFree | 18458162 | Detail |
<0.001 | atherosclerosis | For this reason, we sought to examine the association between the alpha-adducin ... | BeFree | 11283377 | Detail |
0.130 | essential hypertension | The Gly460Trp polymorphism of the alpha-adducin gene (ADD-1 ) has been examined ... | BeFree | 12195119 | Detail |
0.003 | kidney failure | A single-nucleotide polymorphism (Gly460Trp) within the alpha-adducin gene (ADD1... | BeFree | 16612256 | Detail |
<0.001 | atherosclerosis | For this reason, we examined the association between the alpha-adducin (ADD1) G4... | BeFree | 12052841 | Detail |
0.321 | Hypertensive disease | More studies based on a larger population are required to evaluate further the r... | BeFree | 20145305 | Detail |
0.017 | Cerebrovascular accident | Alpha-adducin Gly460Trp variant increases the risk of stroke in hypertensive Dut... | BeFree | 18458162 | Detail |
0.224 | Kidney Failure, Chronic | In this large series of ADPKD patients, we found no effect of the ACE (I/D) poly... | BeFree | 13679477 | Detail |
0.321 | Hypertensive disease | In previous studies, an association has been found between the alpha-adducin Gly... | BeFree | 11775124 | Detail |
0.130 | essential hypertension | Alpha-adducin Gly460Trp polymorphism and essential hypertension in Korea. | BeFree | 15608390 | Detail |
0.321 | Hypertensive disease | Additional studies have suggested that a polymorphism within exon 10 of the huma... | BeFree | 10912756 | Detail |
0.321 | Hypertensive disease | In this short editorial review, we summarize the recent experimental, clinical a... | BeFree | 16207143 | Detail |
0.130 | essential hypertension | α-Adducin Gly460Trp gene mutation and essential hypertension in a Chinese popula... | BeFree | 22272309 | Detail |
0.003 | IgA glomerulonephritis | The ADD1 G460W-dominant model for the G allele was significantly associated with... | BeFree | 24271554 | Detail |
0.321 | Hypertensive disease | Lack of association between alpha-adducin G460W polymorphism and hypertension: e... | BeFree | 19960031 | Detail |
<0.001 | arteriosclerosis | For this reason, we sought to examine the association between the alpha-adducin ... | BeFree | 11283377 | Detail |
0.130 | essential hypertension | Alpha-adducin Gly460Trp polymorphism and renal hemodynamics in essential hyperte... | BeFree | 15326084 | Detail |
0.005 | endolymphatic hydrops | Gly460Trp alpha-adducin mutation as a possible mechanism leading to endolymphati... | BeFree | 18667944 | Detail |
0.013 | coronary artery disease | Association of alpha-adducin Gly460Trp polymorphism with coronary artery disease... | BeFree | 17984662 | Detail |
<0.001 | Chronic kidney disease stage 5 | We investigated the effect of ACE (I/D) polymorphism on the age at end-stage ren... | BeFree | 13679477 | Detail |
0.003 | Hyperlipidemia, Familial Combined | Association between the alpha-adducin Gly460Trp polymorphism and systolic blood ... | BeFree | 11775124 | Detail |
0.321 | Hypertensive disease | An interaction with hypertension in the association between the ADD1 G460W polym... | BeFree | 12052841 | Detail |
0.321 | Hypertensive disease | The alpha-adducin (ADD1) Gly460Trp polymorphism has been associated with hyperte... | BeFree | 18657677 | Detail |
<0.001 | Polycystic Kidney, Autosomal Dominant | Influence of ACE (I/D) and G460W polymorphism of alpha-adducin in autosomal domi... | BeFree | 13679477 | Detail |
0.321 | Hypertensive disease | The ADD1 Gly460Trp polymorphism is significantly associated with an increased ri... | BeFree | 17984662 | Detail |
0.321 | Hypertensive disease | Also in humans, a polymorphism of alpha-adducin gene (Gly460Trp) has been found ... | BeFree | 9678591 | Detail |
0.130 | essential hypertension | No clear consensus has been reached on the alpha-adducin polymorphism (Gly460Trp... | BeFree | 20927398 | Detail |
0.093 | Hypertensive disease | Genetic variability in the ADD1 (Gly460Trp) and ADD2 (C1797T) subunits of the cy... | BeFree | 17301826 | Detail |
0.130 | essential hypertension | A Gly460Trp variant in the alpha-adducin gene has been associated with essential... | BeFree | 15187197 | Detail |
0.321 | Hypertensive disease | The alpha-adducin Gly460Trp polymorphism and the antihypertensive effects of exe... | BeFree | 17472579 | Detail |
0.011 | Chronic kidney disease stage 5 | We investigated the effect of ACE (I/D) polymorphism on the age at end-stage ren... | BeFree | 13679477 | Detail |
0.130 | essential hypertension | Role of the Gly460Trp polymorphism of the alpha-adducin gene in primary hyperten... | BeFree | 10673730 | Detail |
0.130 | essential hypertension | Recent studies have found the tryptophan allele of a glycine to tryptophan polym... | BeFree | 10912757 | Detail |
0.321 | Hypertensive disease | The ADD1 G460W-dominant model for the G allele was significantly associated with... | BeFree | 24271554 | Detail |
0.006 | Kidney Failure, Chronic | In this large series of ADPKD patients, we found no effect of the ACE (I/D) poly... | BeFree | 13679477 | Detail |
0.006 | Coronary heart disease | Association of alpha-adducin Gly460Trp polymorphism with coronary artery disease... | BeFree | 17984662 | Detail |
0.440 | Hypertensive disease | Hence, no evidence was found to suggest an association between either the alpha-... | BeFree | 11116113 | Detail |
0.321 | Hypertensive disease | The angiotensin-converting enzyme (ACE) insertion/deletion (I/D) polymorphism an... | BeFree | 19443911 | Detail |
<0.001 | Coronary Arteriosclerosis | Association of alpha-adducin Gly460Trp polymorphism with coronary artery disease... | BeFree | 17984662 | Detail |
0.130 | essential hypertension | α-adducin Gly460Trp polymorphism and essential hypertension risk in Chinese: a m... | BeFree | 21228790 | Detail |
0.321 | Hypertensive disease | alpha-Adducin Gly460Trp polymorphism is associated with low renin hypertension i... | BeFree | 12195119 | Detail |
0.130 | essential hypertension | We concluded that the Trp/Trp genotype of alpha-adducin Gly460Trp was associated... | BeFree | 15493144 | Detail |
0.363 | Hypertensive disease | alpha-Adducin Gly460Trp polymorphism is associated with low renin hypertension i... | BeFree | 12195119 | Detail |
0.321 | Hypertensive disease | The Gly460Trp variant of the alpha-adducin gene has been associated with the sal... | BeFree | 19145769 | Detail |
0.003 | kidney failure | In this large series of ADPKD patients, we found no effect of the ACE (I/D) poly... | BeFree | 13679477 | Detail |
0.014 | Polycystic Kidney, Autosomal Dominant | Influence of ACE (I/D) and G460W polymorphism of alpha-adducin in autosomal domi... | BeFree | 13679477 | Detail |
0.002 | arteriosclerosis | For this reason, we examined the association between the alpha-adducin (ADD1) G4... | BeFree | 12052841 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_001354761.2(ADD1):c.1378G>T (p.Gly460Trp) AND Hypertension, salt-sensitive essential, susceptibil... | ClinVar | Detail |
NM_001354761.2(ADD1):c.1378G>T (p.Gly460Trp) AND hydrochlorothiazide response - Efficacy | ClinVar | Detail |
In this study, 3 physiologically important candidate gene mutations (angiotensinogen A[-6], alpha-Ad... | DisGeNET | Detail |
In this study, 3 physiologically important candidate gene mutations (angiotensinogen A[-6], alpha-Ad... | DisGeNET | Detail |
In this study, 3 physiologically important candidate gene mutations (angiotensinogen A[-6], alpha-Ad... | DisGeNET | Detail |
In logistic regression, controlling for maternal ethnicity, and using the homozygote wild-type as re... | DisGeNET | Detail |
In logistic regression, controlling for maternal ethnicity, and using the homozygote wild-type as re... | DisGeNET | Detail |
In logistic regression, controlling for maternal ethnicity, and using the homozygote wild-type as re... | DisGeNET | Detail |
In logistic regression, controlling for maternal ethnicity, and using the homozygote wild-type as re... | DisGeNET | Detail |
The ACE I/D, alpha-adducin Gly460Trp and aldosterone synthase -344C/T polymorphisms interact to infl... | DisGeNET | Detail |
The ACE I/D, alpha-adducin Gly460Trp and aldosterone synthase -344C/T polymorphisms interact to infl... | DisGeNET | Detail |
In a prospective analysis of a Caucasian population, we recently found that the genes encoding angio... | DisGeNET | Detail |
This study investigates whether the interaction between diuretics and alpha-adducin (ADD1) G460W or ... | DisGeNET | Detail |
This study investigates whether the interaction between diuretics and alpha-adducin (ADD1) G460W or ... | DisGeNET | Detail |
This study investigates whether the interaction between diuretics and alpha-adducin (ADD1) G460W or ... | DisGeNET | Detail |
In the present study, we investigated the association between Gly460Trp polymorphism of the alpha-ad... | DisGeNET | Detail |
Alpha-adducin Gly460Trp polymorphism and hypertension risk: a meta-analysis of 22 studies including ... | DisGeNET | Detail |
In this large series of ADPKD patients, we found no effect of the ACE (I/D) polymorphism on the age ... | DisGeNET | Detail |
Women with the Trp/Trp genotype of alpha-adducin Gly460Trp might have increased risk for cardiovascu... | DisGeNET | Detail |
Genetic variability in the ADD1 (Gly460Trp) and ADD2 (C1797T) subunits of the cytoskeleton protein a... | DisGeNET | Detail |
Previous studies have shown an association between the alpha-adducin Gly460Trp polymorphism and salt... | DisGeNET | Detail |
In a Caucasian population, the prevalence and incidence of hypertension, renal function and large ar... | DisGeNET | Detail |
In a Caucasian population, the prevalence and incidence of hypertension, renal function and large ar... | DisGeNET | Detail |
Interaction between the Gly460Trp alpha-adducin gene variant and diuretics on the risk of myocardial... | DisGeNET | Detail |
ADD1 Gly460Trp polymorphism is associated with salt-sensitive hypertension and increased Na-K pump a... | DisGeNET | Detail |
For this reason, we examined the association between the alpha-adducin (ADD1) G460W and G-protein be... | DisGeNET | Detail |
A Gly460Trp variant of the cytoskeletal protein alpha-adducin has recently been implicated in the et... | DisGeNET | Detail |
In a Caucasian population, the prevalence and incidence of hypertension, renal function and large ar... | DisGeNET | Detail |
Hence, no evidence was found to suggest an association between either the alpha-adducin G460W or the... | DisGeNET | Detail |
We recently found that femoral intima media thickness, as well as the incidence of hypertension, is ... | DisGeNET | Detail |
For this reason, we examined the association between the alpha-adducin (ADD1) G460W and G-protein be... | DisGeNET | Detail |
The Gly460Trp variant of the alpha-adducin gene has been associated with renal sodium retention and ... | DisGeNET | Detail |
For this reason, we sought to examine the association between the alpha-adducin (ADD1) G/W460 and G-... | DisGeNET | Detail |
The Gly460Trp polymorphism of the alpha-adducin gene (ADD-1 ) has been examined as a candidate gene ... | DisGeNET | Detail |
A single-nucleotide polymorphism (Gly460Trp) within the alpha-adducin gene (ADD1) may influence seve... | DisGeNET | Detail |
For this reason, we examined the association between the alpha-adducin (ADD1) G460W and G-protein be... | DisGeNET | Detail |
More studies based on a larger population are required to evaluate further the role of alpha-adducin... | DisGeNET | Detail |
Alpha-adducin Gly460Trp variant increases the risk of stroke in hypertensive Dutch women. | DisGeNET | Detail |
In this large series of ADPKD patients, we found no effect of the ACE (I/D) polymorphism on the age ... | DisGeNET | Detail |
In previous studies, an association has been found between the alpha-adducin Gly460Trp polymorphism ... | DisGeNET | Detail |
Alpha-adducin Gly460Trp polymorphism and essential hypertension in Korea. | DisGeNET | Detail |
Additional studies have suggested that a polymorphism within exon 10 of the human alpha-adducin gene... | DisGeNET | Detail |
In this short editorial review, we summarize the recent experimental, clinical and epidemiological e... | DisGeNET | Detail |
α-Adducin Gly460Trp gene mutation and essential hypertension in a Chinese population: a meta-analysi... | DisGeNET | Detail |
The ADD1 G460W-dominant model for the G allele was significantly associated with hypertension of IgA... | DisGeNET | Detail |
Lack of association between alpha-adducin G460W polymorphism and hypertension: evidence from a case-... | DisGeNET | Detail |
For this reason, we sought to examine the association between the alpha-adducin (ADD1) G/W460 and G-... | DisGeNET | Detail |
Alpha-adducin Gly460Trp polymorphism and renal hemodynamics in essential hypertension. | DisGeNET | Detail |
Gly460Trp alpha-adducin mutation as a possible mechanism leading to endolymphatic hydrops in Ménière... | DisGeNET | Detail |
Association of alpha-adducin Gly460Trp polymorphism with coronary artery disease in a Korean populat... | DisGeNET | Detail |
We investigated the effect of ACE (I/D) polymorphism on the age at end-stage renal disease (ESRD) in... | DisGeNET | Detail |
Association between the alpha-adducin Gly460Trp polymorphism and systolic blood pressure in familial... | DisGeNET | Detail |
An interaction with hypertension in the association between the ADD1 G460W polymorphism and cardiova... | DisGeNET | Detail |
The alpha-adducin (ADD1) Gly460Trp polymorphism has been associated with hypertension and response t... | DisGeNET | Detail |
Influence of ACE (I/D) and G460W polymorphism of alpha-adducin in autosomal dominant polycystic kidn... | DisGeNET | Detail |
The ADD1 Gly460Trp polymorphism is significantly associated with an increased risk of coronary arter... | DisGeNET | Detail |
Also in humans, a polymorphism of alpha-adducin gene (Gly460Trp) has been found to be significantly ... | DisGeNET | Detail |
No clear consensus has been reached on the alpha-adducin polymorphism (Gly460Trp) and essential hype... | DisGeNET | Detail |
Genetic variability in the ADD1 (Gly460Trp) and ADD2 (C1797T) subunits of the cytoskeleton protein a... | DisGeNET | Detail |
A Gly460Trp variant in the alpha-adducin gene has been associated with essential hypertension. | DisGeNET | Detail |
The alpha-adducin Gly460Trp polymorphism and the antihypertensive effects of exercise among men with... | DisGeNET | Detail |
We investigated the effect of ACE (I/D) polymorphism on the age at end-stage renal disease (ESRD) in... | DisGeNET | Detail |
Role of the Gly460Trp polymorphism of the alpha-adducin gene in primary hypertension in Scandinavian... | DisGeNET | Detail |
Recent studies have found the tryptophan allele of a glycine to tryptophan polymorphism at position ... | DisGeNET | Detail |
The ADD1 G460W-dominant model for the G allele was significantly associated with hypertension of IgA... | DisGeNET | Detail |
In this large series of ADPKD patients, we found no effect of the ACE (I/D) polymorphism on the age ... | DisGeNET | Detail |
Association of alpha-adducin Gly460Trp polymorphism with coronary artery disease in a Korean populat... | DisGeNET | Detail |
Hence, no evidence was found to suggest an association between either the alpha-adducin G460W or the... | DisGeNET | Detail |
The angiotensin-converting enzyme (ACE) insertion/deletion (I/D) polymorphism and the Adducin-1 (ADD... | DisGeNET | Detail |
Association of alpha-adducin Gly460Trp polymorphism with coronary artery disease in a Korean populat... | DisGeNET | Detail |
α-adducin Gly460Trp polymorphism and essential hypertension risk in Chinese: a meta-analysis. | DisGeNET | Detail |
alpha-Adducin Gly460Trp polymorphism is associated with low renin hypertension in younger subjects i... | DisGeNET | Detail |
We concluded that the Trp/Trp genotype of alpha-adducin Gly460Trp was associated with lower serum bi... | DisGeNET | Detail |
alpha-Adducin Gly460Trp polymorphism is associated with low renin hypertension in younger subjects i... | DisGeNET | Detail |
The Gly460Trp variant of the alpha-adducin gene has been associated with the salt-sensitive and diur... | DisGeNET | Detail |
In this large series of ADPKD patients, we found no effect of the ACE (I/D) polymorphism on the age ... | DisGeNET | Detail |
Influence of ACE (I/D) and G460W polymorphism of alpha-adducin in autosomal dominant polycystic kidn... | DisGeNET | Detail |
For this reason, we examined the association between the alpha-adducin (ADD1) G460W and G-protein be... | 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
- rs4961 dbSNP
- Genome
- hg19
- Position
- chr4:2,906,707-2,906,707
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- T
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1208
- Mean of sample read depth (HGVD)
- 132.30
- Standard deviation of sample read depth (HGVD)
- 62.31
- Number of reference allele (HGVD)
- 1047
- Number of alternative allele (HGVD)
- 1369
- Allele Frequency (HGVD)
- 0.5666390728476821
- Gene Symbol (HGVD)
- ADD1
- 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))
- rs4961
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.5449
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 9132
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8626
- East Asian Allele Counts (ExAC)
- 4106
- East Asian Heterozygous Counts (ExAC)
- 2116
- East Asian Homozygous Counts (ExAC)
- 995
- East Asian Allele Frequency (ExAC)
- 0.47600278228611176
- Chromosome Counts in All Race (ExAC)
- 121286
- Allele Counts in All Race (ExAC)
- 24484
- Heterozygous Counts in All Race (ExAC)
- 18492
- Homozygous Counts in All Race (ExAC)
- 2996
- Allele Frequency in All Race (ExAC)
- 0.201869960259222
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