chr17:61568577:C>T Detail (hg19) (ACE)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr17:61,568,577-61,568,577 |
| hg38 | chr17:63,491,216-63,491,216 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000789.3:c.2747C>T | NP_000780.1:p.Thr916Met |
| NM_001178057.1:c.1025C>T | NP_001171528.1:p.Thr342Met | |
| NM_152830.2:c.1025C>T | NP_690043.1:p.Thr342Met |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:[No Data.] | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:<0.001 |
Prediction
ClinVar
| Clinical Significance |
Benign
Likely benign
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Benign
Likely benign
|
2024-03-01 | criteria provided, multiple submitters, no conflicts | not provided |
germline
|
Detail |
|
Likely benign
|
2018-01-12 | criteria provided, single submitter | Renal tubular dysgenesis |
germline
|
Detail |
|
Likely benign
|
2020-01-09 | criteria provided, single submitter | ACE-related disorder |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.014 | Endothelial dysfunction | An increasing body of evidence suggests that different genetic factors, such as ... | BeFree | 17504188 | Detail |
| 0.003 | Endothelial dysfunction | An increasing body of evidence suggests that different genetic factors, such as ... | BeFree | 17504188 | Detail |
| 0.015 | Ischemic stroke | However, it is the interplay of both environmental and common genetic factors [s... | BeFree | 16787209 | Detail |
| <0.001 | Endothelial dysfunction | An increasing body of evidence suggests that different genetic factors, such as ... | BeFree | 17504188 | Detail |
| 0.005 | Endothelial dysfunction | An increasing body of evidence suggests that different genetic factors, such as ... | BeFree | 17504188 | Detail |
| 0.002 | Ischemic stroke | However, it is the interplay of both environmental and common genetic factors [s... | BeFree | 16787209 | Detail |
| 0.029 | Ischemic stroke | However, it is the interplay of both environmental and common genetic factors [s... | BeFree | 16787209 | Detail |
| 0.016 | Ischemic stroke | However, it is the interplay of both environmental and common genetic factors [s... | BeFree | 16787209 | Detail |
| 0.462 | myocardial infarction | Eight common polymorphisms of known myocardial infarction (MI) risk factors (fac... | BeFree | 18457169 | Detail |
| 0.082 | Factor V Leiden mutation | Eight common polymorphisms of known myocardial infarction (MI) risk factors (fac... | BeFree | 18457169 | Detail |
| 0.069 | myocardial infarction | Eight common polymorphisms of known myocardial infarction (MI) risk factors (fac... | BeFree | 18457169 | Detail |
| 0.048 | myocardial infarction | Eight common polymorphisms of known myocardial infarction (MI) risk factors (fac... | BeFree | 18457169 | Detail |
| 0.005 | Factor V Leiden mutation | Eight common polymorphisms of known myocardial infarction (MI) risk factors (fac... | BeFree | 18457169 | Detail |
| 0.197 | myocardial infarction | Eight common polymorphisms of known myocardial infarction (MI) risk factors (fac... | BeFree | 18457169 | Detail |
| 0.082 | Factor V Leiden mutation | The aim of this study was to evaluate the prevalence of factor V Leiden (FVL), p... | BeFree | 18387982 | Detail |
| 0.015 | Ischemic Cerebrovascular Accident | Statistically significant associations with ischemic stroke were identified for ... | BeFree | 15534175 | Detail |
| 0.082 | Factor V Leiden mutation | To find association of angiotensin-converting enzyme (ACE) insertion/deletion (I... | BeFree | 21564405 | Detail |
| 0.013 | thrombophilia | Genetic polymorphisms associated with thrombophilia such as factor V Leiden, pro... | BeFree | 17574520 | Detail |
| 0.054 | Migraine Disorders | Role of the ACE ID and MTHFR C677T polymorphisms in genetic susceptibility of mi... | BeFree | 19081115 | Detail |
| 0.049 | Cardiovascular Diseases | We used the CVD-StripAssay which is based on the reverse-hybridization principle... | BeFree | 17111197 | Detail |
| 0.300 | Cerebrovascular accident | The Factor V Leiden G1691A (Leiden V), the prothrombin G20210A and the methylene... | BeFree | 12382154 | Detail |
| 0.005 | coronary artery disease | We evaluated associations of five candidate genetic polymorphisms (methylene tet... | BeFree | 21450592 | Detail |
| 0.261 | Cardiovascular Diseases | We tested 140 with MI individuals for factor V (FV) Leiden, FV H1299R, Prothromb... | BeFree | 22752805 | Detail |
| 0.049 | Cardiovascular Diseases | We tested 140 with MI individuals for factor V (FV) Leiden, FV H1299R, Prothromb... | BeFree | 22752805 | Detail |
| <0.001 | retinal vein occlusion | Our results suggest that there may be an association between increased risk for ... | BeFree | 23289804 | Detail |
| 0.128 | Diabetes Mellitus, Non-Insulin-Dependent | The aim of the study was to explore the association of the angiotensin-convertin... | BeFree | 23846111 | Detail |
| 0.027 | Cardiovascular Diseases | We used the CVD-StripAssay which is based on the reverse-hybridization principle... | BeFree | 17111197 | Detail |
| 0.054 | Migraine Disorders | Association of von Willebrand factor activity with ACE I/D and MTHFR C677T polym... | BeFree | 19298544 | Detail |
| 0.002 | Microalbuminuria | Analysis of the association of studied MTHFR C677T, A1298C and ACE I/D polymorph... | BeFree | 22554825 | Detail |
| 0.003 | Endothelial dysfunction | A slight chronic hypoperfusion or an endothelial dysfunction associated with unf... | BeFree | 17114822 | Detail |
| 0.128 | Diabetes Mellitus, Non-Insulin-Dependent | ACE I/D and MTHFR C677T polymorphisms are significantly associated with type 2 d... | BeFree | 23458876 | Detail |
| 0.094 | Diabetes Mellitus, Non-Insulin-Dependent | ACE I/D and MTHFR C677T polymorphisms are significantly associated with type 2 d... | BeFree | 23458876 | Detail |
| 0.015 | Ischemic Cerebrovascular Accident | The aim of this study was to evaluate the prevalence of factor V Leiden (FVL), p... | BeFree | 18387982 | Detail |
| 0.016 | Ischemic stroke | Among the gene polymorphisms tested in the study, association of gene polymorphi... | BeFree | 18511872 | Detail |
| 0.094 | Diabetes Mellitus, Non-Insulin-Dependent | Our study for the first time demonstrated a synergistic effect between ACE I/D w... | BeFree | 21942443 | Detail |
| 0.257 | Cerebrovascular accident | The roles of ACE D polymorphism and the MTHFR C677T mutation in stroke, should a... | BeFree | 10949530 | Detail |
| 0.332 | Diabetic Nephropathy | MTHFR C677T, A1298C and ACE I/D polymorphisms as risk factors for diabetic nephr... | BeFree | 22554825 | Detail |
| 0.020 | diabetes mellitus | Our data suggest that ACE ID polymorphism may act synergistically with MTHFR C67... | BeFree | 19857476 | Detail |
| 0.007 | Microalbuminuria | Analysis of the association of studied MTHFR C677T, A1298C and ACE I/D polymorph... | BeFree | 22554825 | Detail |
| 0.005 | Endothelial dysfunction | Angiotensin-converting enzyme (ACE) insertion (I)/deletion (D) and methylenetetr... | BeFree | 19298544 | Detail |
| 0.006 | Ischemic Cerebrovascular Accident | The aim of this study was to evaluate the prevalence of factor V Leiden (FVL), p... | BeFree | 18387982 | Detail |
| 0.005 | Factor V Leiden mutation | To find association of angiotensin-converting enzyme (ACE) insertion/deletion (I... | BeFree | 21564405 | Detail |
| 0.027 | Cardiovascular Diseases | We used the CVD-StripAssay which is based on the reverse-hybridization principle... | BeFree | 18685811 | Detail |
| 0.019 | Factor V Leiden mutation | The aim of this study was to evaluate the prevalence of factor V Leiden (FVL), p... | BeFree | 18387982 | Detail |
| 0.025 | Ischemic stroke | The aim of this study was to evaluate the prevalence of factor V Leiden (FVL), p... | BeFree | 18387982 | Detail |
| 0.026 | Migraine Disorders | Role of the ACE ID and MTHFR C677T polymorphisms in genetic susceptibility of mi... | BeFree | 19081115 | Detail |
| 0.245 | Cardiovascular Diseases | We used the CVD-StripAssay which is based on the reverse-hybridization principle... | BeFree | 18685811 | Detail |
| 0.006 | Ischemic Cerebrovascular Accident | Statistically significant associations with ischemic stroke were identified for ... | BeFree | 15534175 | Detail |
| 0.008 | Ischemic Cerebrovascular Accident | The aim of this study was to evaluate the prevalence of factor V Leiden (FVL), p... | BeFree | 18387982 | Detail |
| 0.029 | Ischemic stroke | Statistically significant associations with ischemic stroke were identified for ... | BeFree | 15534175 | Detail |
| 0.094 | Diabetes Mellitus, Non-Insulin-Dependent | The aim of the study was to explore the association of the angiotensin-convertin... | BeFree | 23846111 | Detail |
| 0.024 | Cardiovascular Diseases | We used the CVD-StripAssay which is based on the reverse-hybridization principle... | BeFree | 18685811 | Detail |
| 0.042 | Diabetic Nephropathy | MTHFR C677T, A1298C and ACE I/D polymorphisms as risk factors for diabetic nephr... | BeFree | 22554825 | Detail |
| 0.018 | Ischemic stroke | Of the eight candidate genes studied, three were associated with ischaemic strok... | BeFree | 17455988 | Detail |
| 0.006 | Ischemic Cerebrovascular Accident | Statistically significant associations with ischemic stroke were identified for ... | BeFree | 15534175 | Detail |
| 0.008 | Ischemic Cerebrovascular Accident | Statistically significant associations with ischemic stroke were identified for ... | BeFree | 15534175 | Detail |
| 0.245 | Cardiovascular Diseases | We used the CVD-StripAssay which is based on the reverse-hybridization principle... | BeFree | 17111197 | Detail |
| <0.001 | Degenerative polyarthritis | MTHFR gene C677T mutation and ACE gene I/D polymorphism in Turkish patients with... | BeFree | 23089924 | Detail |
| 0.003 | Endothelial dysfunction | Angiotensin-converting enzyme (ACE) insertion (I)/deletion (D) and methylenetetr... | BeFree | 19298544 | Detail |
| 0.026 | Migraine Disorders | Association of von Willebrand factor activity with ACE I/D and MTHFR C677T polym... | BeFree | 19298544 | Detail |
| 0.300 | Cerebrovascular accident | The roles of ACE D polymorphism and the MTHFR C677T mutation in stroke, should a... | BeFree | 10949530 | Detail |
| 0.234 | coronary artery disease | We evaluated associations of five candidate genetic polymorphisms (methylene tet... | BeFree | 21450592 | Detail |
| 0.245 | Cardiovascular Diseases | We tested 140 with MI individuals for factor V (FV) Leiden, FV H1299R, Prothromb... | BeFree | 22752805 | Detail |
| 0.261 | Cardiovascular Diseases | We used the CVD-StripAssay which is based on the reverse-hybridization principle... | BeFree | 17111197 | Detail |
| 0.023 | Ischemic stroke | The aim of this study was to evaluate the prevalence of factor V Leiden (FVL), p... | BeFree | 18387982 | Detail |
| 0.024 | Cardiovascular Diseases | We used the CVD-StripAssay which is based on the reverse-hybridization principle... | BeFree | 17111197 | Detail |
| 0.005 | Endothelial dysfunction | A slight chronic hypoperfusion or an endothelial dysfunction associated with unf... | BeFree | 17114822 | Detail |
| 0.006 | Ischemic Cerebrovascular Accident | Among the gene polymorphisms tested in the study, association of gene polymorphi... | BeFree | 18511872 | Detail |
| 0.120 | thrombophilia | Genetic polymorphisms associated with thrombophilia such as factor V Leiden, pro... | BeFree | 17574520 | Detail |
| 0.049 | Cardiovascular Diseases | We used the CVD-StripAssay which is based on the reverse-hybridization principle... | BeFree | 18685811 | Detail |
| 0.016 | Ischemic stroke | Statistically significant associations with ischemic stroke were identified for ... | BeFree | 15534175 | Detail |
| 0.261 | Cardiovascular Diseases | We used the CVD-StripAssay which is based on the reverse-hybridization principle... | BeFree | 18685811 | Detail |
| 0.034 | diabetes mellitus | Our data suggest that ACE ID polymorphism may act synergistically with MTHFR C67... | BeFree | 19857476 | Detail |
| 0.023 | Ischemic stroke | Statistically significant associations with ischemic stroke were identified for ... | BeFree | 15534175 | Detail |
| 0.265 | coronary artery disease | We evaluated associations of five candidate genetic polymorphisms (methylene tet... | BeFree | 21450592 | Detail |
| 0.029 | Ischemic stroke | The aim of this study was to evaluate the prevalence of factor V Leiden (FVL), p... | BeFree | 18387982 | Detail |
| 0.003 | Diabetes | Our data suggest that ACE ID polymorphism may act synergistically with MTHFR C67... | BeFree | 19857476 | Detail |
| 0.128 | Diabetes Mellitus, Non-Insulin-Dependent | Our study for the first time demonstrated a synergistic effect between ACE I/D w... | BeFree | 21942443 | Detail |
| 0.208 | coronary artery disease | We evaluated associations of five candidate genetic polymorphisms (methylene tet... | BeFree | 21450592 | Detail |
| 0.243 | Cardiovascular Diseases | We tested 140 with MI individuals for factor V (FV) Leiden, FV H1299R, Prothromb... | BeFree | 22752805 | Detail |
| 0.016 | Ischemic stroke | Of the eight candidate genes studied, three were associated with ischaemic strok... | BeFree | 17455988 | Detail |
| <0.001 | Migraine Disorders | Association of von Willebrand factor activity with ACE I/D and MTHFR C677T polym... | BeFree | 19298544 | Detail |
| 0.025 | Ischemic stroke | Statistically significant associations with ischemic stroke were identified for ... | BeFree | 15534175 | Detail |
| 0.017 | Diabetes | Our data suggest that ACE ID polymorphism may act synergistically with MTHFR C67... | BeFree | 19857476 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000789.4(ACE):c.2747C>T (p.Thr916Met) AND not provided | ClinVar | Detail |
| NM_000789.4(ACE):c.2747C>T (p.Thr916Met) AND Renal tubular dysgenesis | ClinVar | Detail |
| NM_000789.4(ACE):c.2747C>T (p.Thr916Met) AND ACE-related disorder | ClinVar | Detail |
| An increasing body of evidence suggests that different genetic factors, such as angiotensin-converti... | DisGeNET | Detail |
| An increasing body of evidence suggests that different genetic factors, such as angiotensin-converti... | DisGeNET | Detail |
| However, it is the interplay of both environmental and common genetic factors [such as the Leiden V,... | DisGeNET | Detail |
| An increasing body of evidence suggests that different genetic factors, such as angiotensin-converti... | DisGeNET | Detail |
| An increasing body of evidence suggests that different genetic factors, such as angiotensin-converti... | DisGeNET | Detail |
| However, it is the interplay of both environmental and common genetic factors [such as the Leiden V,... | DisGeNET | Detail |
| However, it is the interplay of both environmental and common genetic factors [such as the Leiden V,... | DisGeNET | Detail |
| However, it is the interplay of both environmental and common genetic factors [such as the Leiden V,... | DisGeNET | Detail |
| Eight common polymorphisms of known myocardial infarction (MI) risk factors (factor V Leiden (FVL), ... | DisGeNET | Detail |
| Eight common polymorphisms of known myocardial infarction (MI) risk factors (factor V Leiden (FVL), ... | DisGeNET | Detail |
| Eight common polymorphisms of known myocardial infarction (MI) risk factors (factor V Leiden (FVL), ... | DisGeNET | Detail |
| Eight common polymorphisms of known myocardial infarction (MI) risk factors (factor V Leiden (FVL), ... | DisGeNET | Detail |
| Eight common polymorphisms of known myocardial infarction (MI) risk factors (factor V Leiden (FVL), ... | DisGeNET | Detail |
| Eight common polymorphisms of known myocardial infarction (MI) risk factors (factor V Leiden (FVL), ... | DisGeNET | Detail |
| The aim of this study was to evaluate the prevalence of factor V Leiden (FVL), prothrombin G20210A, ... | DisGeNET | Detail |
| Statistically significant associations with ischemic stroke were identified for factor V Leiden Arg5... | DisGeNET | Detail |
| To find association of angiotensin-converting enzyme (ACE) insertion/deletion (I/D), angiotensinogen... | DisGeNET | Detail |
| Genetic polymorphisms associated with thrombophilia such as factor V Leiden, prothrombin G20210A, MT... | DisGeNET | Detail |
| Role of the ACE ID and MTHFR C677T polymorphisms in genetic susceptibility of migraine in a north In... | DisGeNET | Detail |
| We used the CVD-StripAssay which is based on the reverse-hybridization principle to identify a total... | DisGeNET | Detail |
| The Factor V Leiden G1691A (Leiden V), the prothrombin G20210A and the methylenetetrahydrofolate red... | DisGeNET | Detail |
| We evaluated associations of five candidate genetic polymorphisms (methylene tetrahydrofolate reduct... | DisGeNET | Detail |
| We tested 140 with MI individuals for factor V (FV) Leiden, FV H1299R, Prothrombin G20210A, factor X... | DisGeNET | Detail |
| We tested 140 with MI individuals for factor V (FV) Leiden, FV H1299R, Prothrombin G20210A, factor X... | DisGeNET | Detail |
| Our results suggest that there may be an association between increased risk for RVO and ACE I/D, MTH... | DisGeNET | Detail |
| The aim of the study was to explore the association of the angiotensin-converting enzyme (ACE) gene ... | DisGeNET | Detail |
| We used the CVD-StripAssay which is based on the reverse-hybridization principle to identify a total... | DisGeNET | Detail |
| Association of von Willebrand factor activity with ACE I/D and MTHFR C677T polymorphisms in migraine... | DisGeNET | Detail |
| Analysis of the association of studied MTHFR C677T, A1298C and ACE I/D polymorphisms with albuminuri... | DisGeNET | Detail |
| A slight chronic hypoperfusion or an endothelial dysfunction associated with unfavorable genetic var... | DisGeNET | Detail |
| ACE I/D and MTHFR C677T polymorphisms are significantly associated with type 2 diabetes in Arab ethn... | DisGeNET | Detail |
| ACE I/D and MTHFR C677T polymorphisms are significantly associated with type 2 diabetes in Arab ethn... | DisGeNET | Detail |
| The aim of this study was to evaluate the prevalence of factor V Leiden (FVL), prothrombin G20210A, ... | DisGeNET | Detail |
| Among the gene polymorphisms tested in the study, association of gene polymorphisms with increasing ... | DisGeNET | Detail |
| Our study for the first time demonstrated a synergistic effect between ACE I/D with either MTHFR C67... | DisGeNET | Detail |
| The roles of ACE D polymorphism and the MTHFR C677T mutation in stroke, should also be taken into co... | DisGeNET | Detail |
| MTHFR C677T, A1298C and ACE I/D polymorphisms as risk factors for diabetic nephropathy among type 2 ... | DisGeNET | Detail |
| Our data suggest that ACE ID polymorphism may act synergistically with MTHFR C677T polymorphism to a... | DisGeNET | Detail |
| Analysis of the association of studied MTHFR C677T, A1298C and ACE I/D polymorphisms with albuminuri... | DisGeNET | Detail |
| Angiotensin-converting enzyme (ACE) insertion (I)/deletion (D) and methylenetetrahydrofolate reducta... | DisGeNET | Detail |
| The aim of this study was to evaluate the prevalence of factor V Leiden (FVL), prothrombin G20210A, ... | DisGeNET | Detail |
| To find association of angiotensin-converting enzyme (ACE) insertion/deletion (I/D), angiotensinogen... | DisGeNET | Detail |
| We used the CVD-StripAssay which is based on the reverse-hybridization principle to identify a total... | DisGeNET | Detail |
| The aim of this study was to evaluate the prevalence of factor V Leiden (FVL), prothrombin G20210A, ... | DisGeNET | Detail |
| The aim of this study was to evaluate the prevalence of factor V Leiden (FVL), prothrombin G20210A, ... | DisGeNET | Detail |
| Role of the ACE ID and MTHFR C677T polymorphisms in genetic susceptibility of migraine in a north In... | DisGeNET | Detail |
| We used the CVD-StripAssay which is based on the reverse-hybridization principle to identify a total... | DisGeNET | Detail |
| Statistically significant associations with ischemic stroke were identified for factor V Leiden Arg5... | DisGeNET | Detail |
| The aim of this study was to evaluate the prevalence of factor V Leiden (FVL), prothrombin G20210A, ... | DisGeNET | Detail |
| Statistically significant associations with ischemic stroke were identified for factor V Leiden Arg5... | DisGeNET | Detail |
| The aim of the study was to explore the association of the angiotensin-converting enzyme (ACE) gene ... | DisGeNET | Detail |
| We used the CVD-StripAssay which is based on the reverse-hybridization principle to identify a total... | DisGeNET | Detail |
| MTHFR C677T, A1298C and ACE I/D polymorphisms as risk factors for diabetic nephropathy among type 2 ... | DisGeNET | Detail |
| Of the eight candidate genes studied, three were associated with ischaemic stroke: the angiotensin I... | DisGeNET | Detail |
| Statistically significant associations with ischemic stroke were identified for factor V Leiden Arg5... | DisGeNET | Detail |
| Statistically significant associations with ischemic stroke were identified for factor V Leiden Arg5... | DisGeNET | Detail |
| We used the CVD-StripAssay which is based on the reverse-hybridization principle to identify a total... | DisGeNET | Detail |
| MTHFR gene C677T mutation and ACE gene I/D polymorphism in Turkish patients with osteoarthritis. | DisGeNET | Detail |
| Angiotensin-converting enzyme (ACE) insertion (I)/deletion (D) and methylenetetrahydrofolate reducta... | DisGeNET | Detail |
| Association of von Willebrand factor activity with ACE I/D and MTHFR C677T polymorphisms in migraine... | DisGeNET | Detail |
| The roles of ACE D polymorphism and the MTHFR C677T mutation in stroke, should also be taken into co... | DisGeNET | Detail |
| We evaluated associations of five candidate genetic polymorphisms (methylene tetrahydrofolate reduct... | DisGeNET | Detail |
| We tested 140 with MI individuals for factor V (FV) Leiden, FV H1299R, Prothrombin G20210A, factor X... | DisGeNET | Detail |
| We used the CVD-StripAssay which is based on the reverse-hybridization principle to identify a total... | DisGeNET | Detail |
| The aim of this study was to evaluate the prevalence of factor V Leiden (FVL), prothrombin G20210A, ... | DisGeNET | Detail |
| We used the CVD-StripAssay which is based on the reverse-hybridization principle to identify a total... | DisGeNET | Detail |
| A slight chronic hypoperfusion or an endothelial dysfunction associated with unfavorable genetic var... | DisGeNET | Detail |
| Among the gene polymorphisms tested in the study, association of gene polymorphisms with increasing ... | DisGeNET | Detail |
| Genetic polymorphisms associated with thrombophilia such as factor V Leiden, prothrombin G20210A, MT... | DisGeNET | Detail |
| We used the CVD-StripAssay which is based on the reverse-hybridization principle to identify a total... | DisGeNET | Detail |
| Statistically significant associations with ischemic stroke were identified for factor V Leiden Arg5... | DisGeNET | Detail |
| We used the CVD-StripAssay which is based on the reverse-hybridization principle to identify a total... | DisGeNET | Detail |
| Our data suggest that ACE ID polymorphism may act synergistically with MTHFR C677T polymorphism to a... | DisGeNET | Detail |
| Statistically significant associations with ischemic stroke were identified for factor V Leiden Arg5... | DisGeNET | Detail |
| We evaluated associations of five candidate genetic polymorphisms (methylene tetrahydrofolate reduct... | DisGeNET | Detail |
| The aim of this study was to evaluate the prevalence of factor V Leiden (FVL), prothrombin G20210A, ... | DisGeNET | Detail |
| Our data suggest that ACE ID polymorphism may act synergistically with MTHFR C677T polymorphism to a... | DisGeNET | Detail |
| Our study for the first time demonstrated a synergistic effect between ACE I/D with either MTHFR C67... | DisGeNET | Detail |
| We evaluated associations of five candidate genetic polymorphisms (methylene tetrahydrofolate reduct... | DisGeNET | Detail |
| We tested 140 with MI individuals for factor V (FV) Leiden, FV H1299R, Prothrombin G20210A, factor X... | DisGeNET | Detail |
| Of the eight candidate genes studied, three were associated with ischaemic stroke: the angiotensin I... | DisGeNET | Detail |
| Association of von Willebrand factor activity with ACE I/D and MTHFR C677T polymorphisms in migraine... | DisGeNET | Detail |
| Statistically significant associations with ischemic stroke were identified for factor V Leiden Arg5... | DisGeNET | Detail |
| Our data suggest that ACE ID polymorphism may act synergistically with MTHFR C677T polymorphism to a... | 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
- rs3730043 dbSNP
- Genome
- hg19
- Position
- chr17:61,568,577-61,568,577
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- East Asian Chromosome Counts (ExAC)
- 8644
- East Asian Allele Counts (ExAC)
- 4
- East Asian Heterozygous Counts (ExAC)
- 4
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 4.6274872744099955E-4
- Chromosome Counts in All Race (ExAC)
- 121198
- Allele Counts in All Race (ExAC)
- 527
- Heterozygous Counts in All Race (ExAC)
- 523
- Homozygous Counts in All Race (ExAC)
- 2
- Allele Frequency in All Race (ExAC)
- 0.004348256571890625
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