chr8:143999600:A>G Detail (hg19) (CYP11B2, LOC110673971)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr8:143,999,600-143,999,600 |
| hg38 | chr8:142,918,184-142,918,184 View the variant detail on this assembly version. |
HGVS
[No Data.]
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.350 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:[No Data.] |
Prediction
ClinVar
| Clinical Significance |
Benign
|
| Review star |  |
| Show details | |
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Benign
|
2024-01-22 | criteria provided, single submitter | not provided |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.012 | essential hypertension | Relationship between -344T/C polymorphism in the aldosterone synthase gene and a... | BeFree | 21846681 | Detail |
| 0.001 | Ischemic Cerebrovascular Accident | Lack of an association between CYP11B2 C-344T gene polymorphism and ischemic str... | BeFree | 23950878 | Detail |
| 0.012 | essential hypertension | After 6 weeks, the results showed that the ACE I/D polymorphism, not the CYP11B2... | BeFree | 21269061 | Detail |
| 0.005 | adenoma | The aim of our study was to identify genetic variants that influence the phenoty... | BeFree | 12107246 | Detail |
| 0.002 | Fibrillation | CYP11B2 T-344C gene polymorphism and atrial fibrillation: a meta-analysis of 2,7... | BeFree | 23209837 | Detail |
| 0.002 | Fibrillation | Relationship between -344T/C polymorphism in the aldosterone synthase gene and a... | BeFree | 21846681 | Detail |
| 0.363 | Hypertensive disease | Lys(173)Arg and -344T/C variants of CYP11B2 in Japanese patients with low-renin ... | BeFree | 10720581 | Detail |
| 0.143 | Hypertensive disease | Association of the -344C/T aldosterone synthase (CYP11B2) gene variant with hype... | BeFree | 20598712 | Detail |
| <0.001 | Low-renin essential hypertension | The aim of the study was to investigate allele and genotype frequencies of the -... | BeFree | 11587161 | Detail |
| 0.001 | Ischemic stroke | Lack of an association between CYP11B2 C-344T gene polymorphism and ischemic str... | BeFree | 23950878 | Detail |
| 0.126 | Renal Insufficiency | We studied retrospectively the role of angiotensinogen (AGT) M235T, angiotensin ... | BeFree | 12832734 | Detail |
| 0.012 | essential hypertension | Association of the -344T/C aldosterone synthase gene variant with essential hype... | BeFree | 19093739 | Detail |
| 0.002 | Vascular inflammations | The CC genotype of the CYP11B2 C-344T polymorphism was associated with an age-de... | BeFree | 20094057 | Detail |
| 0.143 | Hypertensive disease | These results support a potential role of -344T/C CYP11B2 gene polymorphism in g... | BeFree | 19093739 | Detail |
| 0.001 | Ischemic Cerebrovascular Accident | Above all, our results suggest that genetic variation rs1799998 (-344C/T) of CYP... | BeFree | 21228735 | Detail |
| 0.143 | Hypertensive disease | In this study, we evaluated the influence of C-344T polymorphism of aldosterone ... | BeFree | 21476902 | Detail |
| 0.006 | IgA glomerulonephritis | The angiotensin I-converting enzyme (ACE) gene insertion/deletion (I/D), the ang... | BeFree | 21163122 | Detail |
| <0.001 | Chronic glomerulonephritis | Association of aldosterone synthase (CYP11B2) gene -344T/C polymorphism with the... | BeFree | 23681285 | Detail |
| 0.012 | essential hypertension | These data demonstrated that ADRB3 rs4994 and CYP11B2 rs1799998 were significant... | BeFree | 25099490 | Detail |
| 0.011 | Hypertensive disease | Hypertension association reached genome-wide significance for the two variants, ... | BeFree | 22456346 | Detail |
| 0.321 | Hypertensive disease | The ACE I/D, alpha-adducin Gly460Trp and aldosterone synthase -344C/T polymorphi... | BeFree | 15097233 | Detail |
| 0.003 | Cerebrovascular accident | Accumulating evidence suggests that CYP11B2 rs1799998 (-344C/T) polymorphism is ... | BeFree | 23701507 | Detail |
| 0.143 | Hypertensive disease | The C-344T polymorphism in the 5'-flanking region of the aldosterone synthase (C... | BeFree | 11725161 | Detail |
| 0.003 | Coronary Arteriosclerosis | The interaction of the CYP11B2 -344C→T polymorphism (rs1799998), age, and smokin... | BeFree | 22508051 | Detail |
| 0.003 | Metabolic syndrome X | -344C/T Variant in the promoter of the aldosterone synthase gene (CYP11B2) is as... | BeFree | 17261471 | Detail |
| 0.008 | Kidney Failure, Chronic | We studied retrospectively the role of angiotensinogen (AGT) M235T, angiotensin ... | BeFree | 12832734 | Detail |
| 0.010 | kidney failure | We studied retrospectively the role of angiotensinogen (AGT) M235T, angiotensin ... | BeFree | 12832734 | Detail |
| 0.012 | essential hypertension | Association of the C-344T polymorphism of CYP11B2 gene with essential hypertensi... | BeFree | 16126185 | Detail |
| 0.143 | Hypertensive disease | Previous studies have shown that the aldosterone synthase promoter polymorphism ... | BeFree | 16759311 | Detail |
| 0.003 | Renal Insufficiency | We studied retrospectively the role of angiotensinogen (AGT) M235T, angiotensin ... | BeFree | 12832734 | Detail |
| <0.001 | Renal Insufficiency | We studied retrospectively the role of angiotensinogen (AGT) M235T, angiotensin ... | BeFree | 12832734 | Detail |
| 0.143 | Hypertensive disease | The ACE I/D, alpha-adducin Gly460Trp and aldosterone synthase -344C/T polymorphi... | BeFree | 15097233 | Detail |
| 0.012 | essential hypertension | Associations between CYP11B2 gene -344T/C polymorphism and essential hypertensio... | BeFree | 15505931 | Detail |
| 0.012 | essential hypertension | The -344C/T polymorphism in the CYP11B2 gene is associated with essential hypert... | BeFree | 23204185 | Detail |
| 0.008 | Coronary heart disease | The interaction of the CYP11B2 -344C→T polymorphism (rs1799998), age, and smokin... | BeFree | 22508051 | Detail |
| 0.031 | Hypertensive disease | Relationship of aldosterone synthase gene (C-344T) and mineralocorticoid recepto... | BeFree | 20535141 | Detail |
| 0.143 | Hypertensive disease | The -344C/T variant in the promoter of the aldosterone synthase gene (CYP11B2) h... | BeFree | 17261471 | Detail |
| 0.143 | Hypertensive disease | We evaluated the influence of C-344T polymorphism of the aldosterone synthase ge... | BeFree | 21777344 | Detail |
| 0.010 | Cardiomyopathies | Thus, the association between the CYP11B2 C-344T polymorphism and hypertrophy in... | BeFree | 17318792 | Detail |
| 0.012 | essential hypertension | We examined the role of two variations of the aldosterone synthase gene (CYP11B2... | BeFree | 9683048 | Detail |
| 0.033 | essential hypertension | After 6 weeks, the results showed that the ACE I/D polymorphism, not the CYP11B2... | BeFree | 21269061 | Detail |
| 0.031 | Hypertensive disease | The aim of this study was to evaluate the genotypic distribution of mineralocort... | BeFree | 23275203 | Detail |
| 0.007 | Conn Syndrome | The aim of the study was to investigate allele and genotype frequencies of the -... | BeFree | 11587161 | Detail |
| 0.001 | Ischemic stroke | Above all, our results suggest that genetic variation rs1799998 (-344C/T) of CYP... | BeFree | 21228735 | Detail |
| 0.143 | Hypertensive disease | Lys(173)Arg and -344T/C variants of CYP11B2 in Japanese patients with low-renin ... | BeFree | 10720581 | Detail |
| 0.143 | Hypertensive disease | Therefore, -344C/T polymorphism in CYP11B2 was considered an independent genetic... | BeFree | 15055249 | Detail |
| 0.009 | Conn Syndrome | The aim of our study was to identify genetic variants that influence the phenoty... | BeFree | 12107246 | Detail |
| 0.051 | Kidney Failure, Chronic | We studied retrospectively the role of angiotensinogen (AGT) M235T, angiotensin ... | BeFree | 12832734 | Detail |
| 0.012 | essential hypertension | Association of aldosterone synthase (CYP11B2 C-344T) gene polymorphism & suscept... | BeFree | 20966514 | Detail |
| 0.440 | Hypertensive disease | In a prospective analysis of a Caucasian population, we recently found that the ... | BeFree | 15097233 | Detail |
| 0.001 | essential hypertension | These data demonstrated that ADRB3 rs4994 and CYP11B2 rs1799998 were significant... | BeFree | 25099490 | Detail |
| 0.003 | Chronic glomerulonephritis | We evaluate whether angiotensinogen AGT M235T (rs699), angiotensin-converting en... | BeFree | 23681285 | Detail |
| 0.143 | Hypertensive disease | We tested the hypothesis that the -344T/C polymorphism in the aldosterone syntha... | BeFree | 21846681 | Detail |
| 0.012 | essential hypertension | Aldosterone synthase C-344T, angiotensin II type 1 receptor A1166C and 11-β hydr... | BeFree | 25572238 | Detail |
| <0.001 | coronary artery disease | The interaction of the CYP11B2 -344C→T polymorphism (rs1799998), age, and smokin... | BeFree | 22508051 | Detail |
| 0.160 | IgA glomerulonephritis | The angiotensin I-converting enzyme (ACE) gene insertion/deletion (I/D), the ang... | BeFree | 21163122 | Detail |
| 0.143 | Hypertensive disease | In the present case-control study, we investigated the association of -344T/C po... | BeFree | 12444540 | Detail |
| <0.001 | Low-renin essential hypertension | These results suggest that -344T/C polymorphism of CYP11B2 gene may be associate... | BeFree | 15505931 | Detail |
| 0.024 | IgA glomerulonephritis | The angiotensin I-converting enzyme (ACE) gene insertion/deletion (I/D), the ang... | BeFree | 21163122 | Detail |
| 0.003 | Cerebrovascular accident | Association of the -344C/T aldosterone synthase (CYP11B2) gene variant with hype... | BeFree | 20598712 | Detail |
| <0.001 | Vascular inflammations | The CC genotype of the CYP11B2 C-344T polymorphism was associated with an age-de... | BeFree | 20094057 | Detail |
| 0.177 | IgA glomerulonephritis | The angiotensin I-converting enzyme (ACE) gene insertion/deletion (I/D), the ang... | BeFree | 21163122 | Detail |
| <0.001 | Chronic glomerulonephritis | We evaluate whether angiotensinogen AGT M235T (rs699), angiotensin-converting en... | BeFree | 23681285 | Detail |
| 0.009 | Heart failure | The CYP11B2 C-344T genotype was determined in 104 patients with heart failure wh... | BeFree | 17631084 | Detail |
| 0.003 | congestive heart failure | The CYP11B2 C-344T genotype was determined in 104 patients with heart failure wh... | BeFree | 17631084 | Detail |
| 0.140 | essential hypertension | Aldosterone synthase C-344T, angiotensin II type 1 receptor A1166C and 11-β hydr... | BeFree | 25572238 | Detail |
| 0.006 | IgA glomerulonephritis | Our results suggest that the CYP11B2 -344C/T polymorphism might be an independen... | BeFree | 23681285 | Detail |
| 0.003 | Chronic glomerulonephritis | We evaluate whether angiotensinogen AGT M235T (rs699), angiotensin-converting en... | BeFree | 23681285 | Detail |
| <0.001 | Left ventricular dilatation | Recently, the biallelic -344T/C polymorphism of the aldosterone synthase gene wa... | BeFree | 10720582 | Detail |
| <0.001 | High-renin essential hypertension | The aim of the study was to investigate allele and genotype frequencies of the -... | BeFree | 11587161 | Detail |
| 0.143 | Hypertensive disease | In our study panels, the most significant association was found for CYP11B2 rs17... | BeFree | 22456346 | Detail |
| 0.143 | Hypertensive disease | Recently, a C-344T polymorphism in the promoter region of the CYP11B2 gene has b... | BeFree | 16126185 | Detail |
| 0.123 | Renal Insufficiency | We studied retrospectively the role of angiotensinogen (AGT) M235T, angiotensin ... | BeFree | 12832734 | Detail |
| <0.001 | acromegaly | CYP11B2 -344T/C gene polymorphism and blood pressure in patients with acromegaly... | BeFree | 17003099 | Detail |
| <0.001 | Heart Failure, Systolic | We analyzed the possible association between aldosterone synthase (CYP11B2) T-34... | BeFree | 18638595 | Detail |
| <0.001 | Low-renin essential hypertension | The aim of the study was to investigate allele and genotype frequencies of the -... | BeFree | 11587161 | Detail |
| <0.001 | High altitude pulmonary edema | The single-locus analysis showed that CYP11B2 C-344T and K173R and ACE A-240T po... | BeFree | 17987391 | Detail |
| 0.026 | essential hypertension | We examined the role of two variations of the aldosterone synthase gene (CYP11B2... | BeFree | 9683048 | Detail |
| 0.006 | IgA glomerulonephritis | Impact of aldosterone synthase gene C-344T polymorphism on IgA nephropathy. | BeFree | 21476902 | Detail |
| 0.224 | Kidney Failure, Chronic | We studied retrospectively the role of angiotensinogen (AGT) M235T, angiotensin ... | BeFree | 12832734 | Detail |
| <0.001 | kidney failure | We studied retrospectively the role of angiotensinogen (AGT) M235T, angiotensin ... | BeFree | 12832734 | Detail |
| 0.002 | High altitude pulmonary edema | The single-locus analysis showed that CYP11B2 C-344T and K173R and ACE A-240T po... | BeFree | 17987391 | Detail |
| 0.143 | Hypertensive disease | To investigate the -344C/T and intron 2 conversion polymorphisms of aldosterone ... | BeFree | 23135028 | Detail |
| 0.143 | Hypertensive disease | We previously described an association between the -344C/T 5'-untranslated regio... | BeFree | 17121536 | Detail |
| 0.143 | Hypertensive disease | Our study suggested that the -344T/C polymorphism in the CYP11B2 gene was signif... | BeFree | 23204185 | Detail |
| <0.001 | Focal glomerulosclerosis | Influence of aldosterone synthase gene C-344T polymorphism on focal segmental gl... | BeFree | 21777344 | Detail |
| 0.012 | essential hypertension | It has been suggested that an aldosterone synthase gene polymorphism (CYP11B2 -3... | BeFree | 16714246 | Detail |
| 0.143 | Hypertensive disease | Aldosterone synthase (CYP11B2) -344 C/T polymorphism is associated with left ven... | BeFree | 11693765 | Detail |
| 0.025 | kidney failure | We studied retrospectively the role of angiotensinogen (AGT) M235T, angiotensin ... | BeFree | 12832734 | Detail |
| 0.012 | essential hypertension | Association of the C-344T aldosterone synthase gene variant with essential hyper... | BeFree | 17143166 | Detail |
| 0.143 | Hypertensive disease | There was a trend towards a higher frequency of the T allele in subjects with a ... | BeFree | 10608469 | Detail |
| 0.143 | Hypertensive disease | Relationship of aldosterone synthase gene (C-344T) and mineralocorticoid recepto... | BeFree | 20535141 | Detail |
| 0.009 | Conn Syndrome | The aim of the study was to investigate allele and genotype frequencies of the -... | BeFree | 11587161 | Detail |
| <0.001 | Focal glomerulosclerosis | We also observed that the CYP11B2 -344C/T polymorphism in the recessive model ma... | BeFree | 23681285 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000498.3(CYP11B2):c.-344T>C AND not provided | ClinVar | Detail |
| Relationship between -344T/C polymorphism in the aldosterone synthase gene and atrial fibrillation i... | DisGeNET | Detail |
| Lack of an association between CYP11B2 C-344T gene polymorphism and ischemic stroke: a meta-analysis... | DisGeNET | Detail |
| After 6 weeks, the results showed that the ACE I/D polymorphism, not the CYP11B2 -344T/C polymorphis... | DisGeNET | Detail |
| The aim of our study was to identify genetic variants that influence the phenotype of patients with ... | DisGeNET | Detail |
| CYP11B2 T-344C gene polymorphism and atrial fibrillation: a meta-analysis of 2,758 subjects. | DisGeNET | Detail |
| Relationship between -344T/C polymorphism in the aldosterone synthase gene and atrial fibrillation i... | DisGeNET | Detail |
| Lys(173)Arg and -344T/C variants of CYP11B2 in Japanese patients with low-renin hypertension. | DisGeNET | Detail |
| Association of the -344C/T aldosterone synthase (CYP11B2) gene variant with hypertension and stroke. | DisGeNET | Detail |
| The aim of the study was to investigate allele and genotype frequencies of the -344C/T polymorphism,... | DisGeNET | Detail |
| Lack of an association between CYP11B2 C-344T gene polymorphism and ischemic stroke: a meta-analysis... | DisGeNET | Detail |
| We studied retrospectively the role of angiotensinogen (AGT) M235T, angiotensin converting enzyme (A... | DisGeNET | Detail |
| Association of the -344T/C aldosterone synthase gene variant with essential hypertension. | DisGeNET | Detail |
| The CC genotype of the CYP11B2 C-344T polymorphism was associated with an age-dependent increase in ... | DisGeNET | Detail |
| These results support a potential role of -344T/C CYP11B2 gene polymorphism in genetic predispositio... | DisGeNET | Detail |
| Above all, our results suggest that genetic variation rs1799998 (-344C/T) of CYP11B2 gene may contri... | DisGeNET | Detail |
| In this study, we evaluated the influence of C-344T polymorphism of aldosterone synthase gene, assoc... | DisGeNET | Detail |
| The angiotensin I-converting enzyme (ACE) gene insertion/deletion (I/D), the angiotensinogen (AGT) g... | DisGeNET | Detail |
| Association of aldosterone synthase (CYP11B2) gene -344T/C polymorphism with the risk of primary chr... | DisGeNET | Detail |
| These data demonstrated that ADRB3 rs4994 and CYP11B2 rs1799998 were significantly closely associate... | DisGeNET | Detail |
| Hypertension association reached genome-wide significance for the two variants, specifically, P=7.3 ... | DisGeNET | Detail |
| The ACE I/D, alpha-adducin Gly460Trp and aldosterone synthase -344C/T polymorphisms interact to infl... | DisGeNET | Detail |
| Accumulating evidence suggests that CYP11B2 rs1799998 (-344C/T) polymorphism is independently associ... | DisGeNET | Detail |
| The C-344T polymorphism in the 5'-flanking region of the aldosterone synthase (CYP11B2) gene has bee... | DisGeNET | Detail |
| The interaction of the CYP11B2 -344C→T polymorphism (rs1799998), age, and smoking status is also ass... | DisGeNET | Detail |
| -344C/T Variant in the promoter of the aldosterone synthase gene (CYP11B2) is associated with metabo... | DisGeNET | Detail |
| We studied retrospectively the role of angiotensinogen (AGT) M235T, angiotensin converting enzyme (A... | DisGeNET | Detail |
| We studied retrospectively the role of angiotensinogen (AGT) M235T, angiotensin converting enzyme (A... | DisGeNET | Detail |
| Association of the C-344T polymorphism of CYP11B2 gene with essential hypertension in Hani and Yi mi... | DisGeNET | Detail |
| Previous studies have shown that the aldosterone synthase promoter polymorphism -344T/C influences a... | DisGeNET | Detail |
| We studied retrospectively the role of angiotensinogen (AGT) M235T, angiotensin converting enzyme (A... | DisGeNET | Detail |
| We studied retrospectively the role of angiotensinogen (AGT) M235T, angiotensin converting enzyme (A... | DisGeNET | Detail |
| The ACE I/D, alpha-adducin Gly460Trp and aldosterone synthase -344C/T polymorphisms interact to infl... | DisGeNET | Detail |
| Associations between CYP11B2 gene -344T/C polymorphism and essential hypertension in the Han nationa... | DisGeNET | Detail |
| The -344C/T polymorphism in the CYP11B2 gene is associated with essential hypertension in the Chines... | DisGeNET | Detail |
| The interaction of the CYP11B2 -344C→T polymorphism (rs1799998), age, and smoking status is also ass... | DisGeNET | Detail |
| Relationship of aldosterone synthase gene (C-344T) and mineralocorticoid receptor (S810L) polymorphi... | DisGeNET | Detail |
| The -344C/T variant in the promoter of the aldosterone synthase gene (CYP11B2) has been associated w... | DisGeNET | Detail |
| We evaluated the influence of C-344T polymorphism of the aldosterone synthase gene, associated with ... | DisGeNET | Detail |
| Thus, the association between the CYP11B2 C-344T polymorphism and hypertrophy in HCM most likely rel... | DisGeNET | Detail |
| We examined the role of two variations of the aldosterone synthase gene (CYP11B2), one located in th... | DisGeNET | Detail |
| After 6 weeks, the results showed that the ACE I/D polymorphism, not the CYP11B2 -344T/C polymorphis... | DisGeNET | Detail |
| The aim of this study was to evaluate the genotypic distribution of mineralocorticoid receptor and c... | DisGeNET | Detail |
| The aim of the study was to investigate allele and genotype frequencies of the -344C/T polymorphism,... | DisGeNET | Detail |
| Above all, our results suggest that genetic variation rs1799998 (-344C/T) of CYP11B2 gene may contri... | DisGeNET | Detail |
| Lys(173)Arg and -344T/C variants of CYP11B2 in Japanese patients with low-renin hypertension. | DisGeNET | Detail |
| Therefore, -344C/T polymorphism in CYP11B2 was considered an independent genetic factor possibly ass... | DisGeNET | Detail |
| The aim of our study was to identify genetic variants that influence the phenotype of patients with ... | DisGeNET | Detail |
| We studied retrospectively the role of angiotensinogen (AGT) M235T, angiotensin converting enzyme (A... | DisGeNET | Detail |
| Association of aldosterone synthase (CYP11B2 C-344T) gene polymorphism & susceptibility to essential... | DisGeNET | Detail |
| In a prospective analysis of a Caucasian population, we recently found that the genes encoding angio... | DisGeNET | Detail |
| These data demonstrated that ADRB3 rs4994 and CYP11B2 rs1799998 were significantly closely associate... | DisGeNET | Detail |
| We evaluate whether angiotensinogen AGT M235T (rs699), angiotensin-converting enzyme ACE (I/D) (rs46... | DisGeNET | Detail |
| We tested the hypothesis that the -344T/C polymorphism in the aldosterone synthase gene may be assoc... | DisGeNET | Detail |
| Aldosterone synthase C-344T, angiotensin II type 1 receptor A1166C and 11-β hydroxysteroid dehydroge... | DisGeNET | Detail |
| The interaction of the CYP11B2 -344C→T polymorphism (rs1799998), age, and smoking status is also ass... | DisGeNET | Detail |
| The angiotensin I-converting enzyme (ACE) gene insertion/deletion (I/D), the angiotensinogen (AGT) g... | DisGeNET | Detail |
| In the present case-control study, we investigated the association of -344T/C polymorphism in the pr... | DisGeNET | Detail |
| These results suggest that -344T/C polymorphism of CYP11B2 gene may be associated with low-renin ess... | DisGeNET | Detail |
| The angiotensin I-converting enzyme (ACE) gene insertion/deletion (I/D), the angiotensinogen (AGT) g... | DisGeNET | Detail |
| Association of the -344C/T aldosterone synthase (CYP11B2) gene variant with hypertension and stroke. | DisGeNET | Detail |
| The CC genotype of the CYP11B2 C-344T polymorphism was associated with an age-dependent increase in ... | DisGeNET | Detail |
| The angiotensin I-converting enzyme (ACE) gene insertion/deletion (I/D), the angiotensinogen (AGT) g... | DisGeNET | Detail |
| We evaluate whether angiotensinogen AGT M235T (rs699), angiotensin-converting enzyme ACE (I/D) (rs46... | DisGeNET | Detail |
| The CYP11B2 C-344T genotype was determined in 104 patients with heart failure who were in New York H... | DisGeNET | Detail |
| The CYP11B2 C-344T genotype was determined in 104 patients with heart failure who were in New York H... | DisGeNET | Detail |
| Aldosterone synthase C-344T, angiotensin II type 1 receptor A1166C and 11-β hydroxysteroid dehydroge... | DisGeNET | Detail |
| Our results suggest that the CYP11B2 -344C/T polymorphism might be an independent risk factor of IgA... | DisGeNET | Detail |
| We evaluate whether angiotensinogen AGT M235T (rs699), angiotensin-converting enzyme ACE (I/D) (rs46... | DisGeNET | Detail |
| Recently, the biallelic -344T/C polymorphism of the aldosterone synthase gene was associated with in... | DisGeNET | Detail |
| The aim of the study was to investigate allele and genotype frequencies of the -344C/T polymorphism,... | DisGeNET | Detail |
| In our study panels, the most significant association was found for CYP11B2 rs1799998 with all three... | DisGeNET | Detail |
| Recently, a C-344T polymorphism in the promoter region of the CYP11B2 gene has been reported to be i... | DisGeNET | Detail |
| We studied retrospectively the role of angiotensinogen (AGT) M235T, angiotensin converting enzyme (A... | DisGeNET | Detail |
| CYP11B2 -344T/C gene polymorphism and blood pressure in patients with acromegaly. | DisGeNET | Detail |
| We analyzed the possible association between aldosterone synthase (CYP11B2) T-344C polymorphism, whi... | DisGeNET | Detail |
| The aim of the study was to investigate allele and genotype frequencies of the -344C/T polymorphism,... | DisGeNET | Detail |
| The single-locus analysis showed that CYP11B2 C-344T and K173R and ACE A-240T polymorphisms were sig... | DisGeNET | Detail |
| We examined the role of two variations of the aldosterone synthase gene (CYP11B2), one located in th... | DisGeNET | Detail |
| Impact of aldosterone synthase gene C-344T polymorphism on IgA nephropathy. | DisGeNET | Detail |
| We studied retrospectively the role of angiotensinogen (AGT) M235T, angiotensin converting enzyme (A... | DisGeNET | Detail |
| We studied retrospectively the role of angiotensinogen (AGT) M235T, angiotensin converting enzyme (A... | DisGeNET | Detail |
| The single-locus analysis showed that CYP11B2 C-344T and K173R and ACE A-240T polymorphisms were sig... | DisGeNET | Detail |
| To investigate the -344C/T and intron 2 conversion polymorphisms of aldosterone synthase gene (CYP11... | DisGeNET | Detail |
| We previously described an association between the -344C/T 5'-untranslated region (UTR) polymorphism... | DisGeNET | Detail |
| Our study suggested that the -344T/C polymorphism in the CYP11B2 gene was significantly associated w... | DisGeNET | Detail |
| Influence of aldosterone synthase gene C-344T polymorphism on focal segmental glomerulosclerosis. | DisGeNET | Detail |
| It has been suggested that an aldosterone synthase gene polymorphism (CYP11B2 -344T/C) is predictive... | DisGeNET | Detail |
| Aldosterone synthase (CYP11B2) -344 C/T polymorphism is associated with left ventricular structure i... | DisGeNET | Detail |
| We studied retrospectively the role of angiotensinogen (AGT) M235T, angiotensin converting enzyme (A... | DisGeNET | Detail |
| Association of the C-344T aldosterone synthase gene variant with essential hypertension: a meta-anal... | DisGeNET | Detail |
| There was a trend towards a higher frequency of the T allele in subjects with a positive family hist... | DisGeNET | Detail |
| Relationship of aldosterone synthase gene (C-344T) and mineralocorticoid receptor (S810L) polymorphi... | DisGeNET | Detail |
| The aim of the study was to investigate allele and genotype frequencies of the -344C/T polymorphism,... | DisGeNET | Detail |
| We also observed that the CYP11B2 -344C/T polymorphism in the recessive model may also be an indepen... | DisGeNET | Detail |
- Gene
- -
- dbSNP
- rs1799998 dbSNP
- Genome
- hg19
- Position
- chr8:143,999,600-143,999,600
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
- 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))
- rs1799998
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.3495
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 5858
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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