KNG1, kininogen 1, 3827

N. diseases: 279; N. variants: 24
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918131
rs121918131
Entrez Id: 3827
Gene Symbol: KNG1
KNG1
CUI: C1856719
Disease:
Kininogen Deficiency, Total
T 0.700 CausalMutation CLINVAR
dbSNP: rs797044429
rs797044429
Entrez Id: 3827
Gene Symbol: KNG1
KNG1
CUI: C0272340
Disease:
High molecular weight kininogen deficiency
T 0.700 GeneticVariation CLINVAR
dbSNP: rs797044430
rs797044430
Entrez Id: 3827
Gene Symbol: KNG1
KNG1
CUI: C0272340
Disease:
High molecular weight kininogen deficiency
AC 0.700 GeneticVariation CLINVAR
dbSNP: rs869320718
rs869320718
Entrez Id: 3827
Gene Symbol: KNG1
KNG1
CUI: C0272340
Disease:
High molecular weight kininogen deficiency
GGTGGTGGTGGTGGTGGTTTGTTTTTGG 0.700 GeneticVariation CLINVAR
dbSNP: rs755460305
rs755460305
Entrez Id: 3827
Gene Symbol: KNG1
KNG1
CUI: C0004153
Disease:
Atherosclerosis
0.010 GeneticVariation BEFREE Reduced vasorelaxations were associated with increased number of clinical risk factors for atherosclerosis (r = - 0.54, P < 0.001), whereas the Glu298Asp variant was not associated with any differences in contractions to phenylephrine, NO-mediated vasorelaxations to acetylcholine, bradykinin or calcium ionophore, or relaxations to the NO donor sodium nitroprusside. 11298374 2001
dbSNP: rs755460305
rs755460305
Entrez Id: 3827
Gene Symbol: KNG1
KNG1
CUI: C0042373
Disease:
Vascular Diseases
0.010 GeneticVariation BEFREE The Glu298Asp (G894T) polymorphic variant of eNOS has been associated with vascular disease, but functional data are lacking. 11298374 2001
dbSNP: rs755460305
rs755460305
Entrez Id: 3827
Gene Symbol: KNG1
KNG1
CUI: C0003850
Disease:
Arteriosclerosis
0.010 GeneticVariation BEFREE Reduced vasorelaxations were associated with increased number of clinical risk factors for atherosclerosis (r = - 0.54, P < 0.001), whereas the Glu298Asp variant was not associated with any differences in contractions to phenylephrine, NO-mediated vasorelaxations to acetylcholine, bradykinin or calcium ionophore, or relaxations to the NO donor sodium nitroprusside. 11298374 2001
dbSNP: rs755460305
rs755460305
Entrez Id: 3827
Gene Symbol: KNG1
KNG1
CUI: C0036421
Disease:
Systemic Scleroderma
0.010 GeneticVariation BEFREE The aim of our study was to investigate the effects of ACE insertion/deletion (I/D) and endothelial nitric oxide synthase (eNOS) Glu298Asp (G894-->T) and T-786-->C polymorphisms in patients with systemic sclerosis. 12015245 2002
dbSNP: rs2304456
rs2304456
Entrez Id: 3827
Gene Symbol: KNG1
KNG1
CUI: C0020538
Disease:
Hypertensive disease
0.010 GeneticVariation BEFREE In male, but not female participants, rs2304456 CC genotype and rs4686799 TT genotype were significantly related to hypertension [odds ratio (OR) = 2.20, 95% confidence interval (CI): 1.24-3.90, P = 0.007 and OR = 1.31, 95% CI: 1.04-1.66, P = 0.025, respectively]. 19330902 2009
dbSNP: rs4686799
rs4686799
Entrez Id: 3827
Gene Symbol: KNG1
KNG1
CUI: C0020538
Disease:
Hypertensive disease
0.010 GeneticVariation BEFREE In male, but not female participants, rs2304456 CC genotype and rs4686799 TT genotype were significantly related to hypertension [odds ratio (OR) = 2.20, 95% confidence interval (CI): 1.24-3.90, P = 0.007 and OR = 1.31, 95% CI: 1.04-1.66, P = 0.025, respectively]. 19330902 2009
dbSNP: rs710446
rs710446
Entrez Id: 3827
Gene Symbol: KNG1
KNG1
CUI: C0030605
Disease:
Activated Partial Thromboplastin Time measurement
G 0.800 GeneticVariation GWASCAT We conducted a genome-wide association study for aPTT and identified significant associations with SNPs in three coagulation cascade genes, F12 (rs2731672, combined p = 2.16 x 10(-30)), KNG1 (rs710446, combined p = 9.52 x 10(-22)), and HRG (rs9898, combined p = 1.34 x 10(-11)). 20303064 2010
dbSNP: rs710446
rs710446
Entrez Id: 3827
Gene Symbol: KNG1
KNG1
CUI: C0030605
Disease:
Activated Partial Thromboplastin Time measurement
G 0.800 GeneticVariation GWASDB We conducted a genome-wide association study for aPTT and identified significant associations with SNPs in three coagulation cascade genes, F12 (rs2731672, combined p = 2.16 x 10(-30)), KNG1 (rs710446, combined p = 9.52 x 10(-22)), and HRG (rs9898, combined p = 1.34 x 10(-11)). 20303064 2010
dbSNP: rs710446
rs710446
Entrez Id: 3827
Gene Symbol: KNG1
KNG1
CUI: C0030605
Disease:
Activated Partial Thromboplastin Time measurement
C 0.800 GeneticVariation GWASDB Genetic associations for activated partial thromboplastin time and prothrombin time, their gene expression profiles, and risk of coronary artery disease. 22703881 2012
dbSNP: rs710446
rs710446
Entrez Id: 3827
Gene Symbol: KNG1
KNG1
CUI: C0030605
Disease:
Activated Partial Thromboplastin Time measurement
C 0.800 GeneticVariation GWASCAT Genetic associations for activated partial thromboplastin time and prothrombin time, their gene expression profiles, and risk of coronary artery disease. 22703881 2012
dbSNP: rs710446
rs710446
Entrez Id: 3827
Gene Symbol: KNG1
KNG1
CUI: C0030605
Disease:
Activated Partial Thromboplastin Time measurement
0.800 GeneticVariation GWASDB A gene-centric analysis of activated partial thromboplastin time and activated protein C resistance using the HumanCVD focused genotyping array. 23188048 2013
dbSNP: rs1621816
rs1621816
Entrez Id: 3827
Gene Symbol: KNG1
KNG1
CUI: C0030605
Disease:
Activated Partial Thromboplastin Time measurement
0.700 GeneticVariation GWASDB A gene-centric analysis of activated partial thromboplastin time and activated protein C resistance using the HumanCVD focused genotyping array. 23188048 2013
dbSNP: rs1624230
rs1624230
Entrez Id: 3827
Gene Symbol: KNG1
KNG1
CUI: C0030605
Disease:
Activated Partial Thromboplastin Time measurement
0.700 GeneticVariation GWASDB A gene-centric analysis of activated partial thromboplastin time and activated protein C resistance using the HumanCVD focused genotyping array. 23188048 2013
dbSNP: rs1624569
rs1624569
Entrez Id: 3827
Gene Symbol: KNG1
KNG1
CUI: C0030605
Disease:
Activated Partial Thromboplastin Time measurement
0.700 GeneticVariation GWASDB A gene-centric analysis of activated partial thromboplastin time and activated protein C resistance using the HumanCVD focused genotyping array. 23188048 2013
dbSNP: rs2062632
rs2062632
Entrez Id: 3827
Gene Symbol: KNG1
KNG1
CUI: C0030605
Disease:
Activated Partial Thromboplastin Time measurement
0.700 GeneticVariation GWASDB A gene-centric analysis of activated partial thromboplastin time and activated protein C resistance using the HumanCVD focused genotyping array. 23188048 2013
dbSNP: rs266723
rs266723
Entrez Id: 3827
Gene Symbol: KNG1
KNG1
CUI: C0030605
Disease:
Activated Partial Thromboplastin Time measurement
0.700 GeneticVariation GWASDB A gene-centric analysis of activated partial thromboplastin time and activated protein C resistance using the HumanCVD focused genotyping array. 23188048 2013
dbSNP: rs3856930
rs3856930
Entrez Id: 3827
Gene Symbol: KNG1
KNG1
CUI: C0030605
Disease:
Activated Partial Thromboplastin Time measurement
0.700 GeneticVariation GWASDB A gene-centric analysis of activated partial thromboplastin time and activated protein C resistance using the HumanCVD focused genotyping array. 23188048 2013
dbSNP: rs5030023
rs5030023
Entrez Id: 3827
Gene Symbol: KNG1
KNG1
CUI: C0030605
Disease:
Activated Partial Thromboplastin Time measurement
0.700 GeneticVariation GWASDB A gene-centric analysis of activated partial thromboplastin time and activated protein C resistance using the HumanCVD focused genotyping array. 23188048 2013
dbSNP: rs5030028
rs5030028
Entrez Id: 3827
Gene Symbol: KNG1
KNG1
CUI: C0030605
Disease:
Activated Partial Thromboplastin Time measurement
0.700 GeneticVariation GWASDB A gene-centric analysis of activated partial thromboplastin time and activated protein C resistance using the HumanCVD focused genotyping array. 23188048 2013
dbSNP: rs5030062
rs5030062
Entrez Id: 3827
Gene Symbol: KNG1
KNG1
CUI: C0030605
Disease:
Activated Partial Thromboplastin Time measurement
0.700 GeneticVariation GWASDB A gene-centric analysis of activated partial thromboplastin time and activated protein C resistance using the HumanCVD focused genotyping array. 23188048 2013
dbSNP: rs5030091
rs5030091
Entrez Id: 3827
Gene Symbol: KNG1
KNG1
CUI: C0030605
Disease:
Activated Partial Thromboplastin Time measurement
0.700 GeneticVariation GWASDB A gene-centric analysis of activated partial thromboplastin time and activated protein C resistance using the HumanCVD focused genotyping array. 23188048 2013