Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs75070487
rs75070487
Entrez Id: 3779;30820;101928033
Gene Symbol: KCNMB1;KCNIP1;KCNIP1-OT1
KCNMB1;KCNIP1;KCNIP1-OT1
CUI: C0036341
Disease:
Schizophrenia
G 0.700 GeneticVariation GWASCAT Genome-wide association study of paliperidone efficacy. 27846195 2017
dbSNP: rs11739136
rs11739136
Entrez Id: 3779;30820
Gene Symbol: KCNMB1;KCNIP1
KCNMB1;KCNIP1
CUI: C0020538
Disease:
Hypertensive disease
0.040 GeneticVariation BEFREE The results suggest that profiling patients at Glu65Lys can assist in gauging renal prognosis as well as selection of rational therapy in hypertension with progressive renal disease. 20861615 2010
dbSNP: rs11739136
rs11739136
Entrez Id: 3779;30820
Gene Symbol: KCNMB1;KCNIP1
KCNMB1;KCNIP1
CUI: C0020538
Disease:
Hypertensive disease
0.040 GeneticVariation BEFREE Moreover, the epidemiological studies showed that the presence of the E65K polymorphism in, e.g., BKCa beta1-subunit gene (producing a "gain-of-function") lowers the prevalence for severe hypertension and myocardial infarction. 20043229 2010
dbSNP: rs11739136
rs11739136
Entrez Id: 3779;30820
Gene Symbol: KCNMB1;KCNIP1
KCNMB1;KCNIP1
CUI: C0020538
Disease:
Hypertensive disease
0.040 GeneticVariation BEFREE We also found that the carriers of minor T allele of KCNMB1-rs11739136 had a significantly decreased risk for hypertension (TT+CT vs. CC; odds ratio=0.83; 95% confidence interval, 0.72-0.95; P value after the Bonferroni correction=0.008 x 5=0.040). 18496125 2008
dbSNP: rs11739136
rs11739136
Entrez Id: 3779;30820
Gene Symbol: KCNMB1;KCNIP1
KCNMB1;KCNIP1
CUI: C0020538
Disease:
Hypertensive disease
0.040 GeneticVariation BEFREE The previous studies have, however, been conflicting, and the aim of the present study was to clarify the impact of the Glu65Lys polymorphism on hypertension at the population level of middle-aged people. 18854753 2008
dbSNP: rs11739136
rs11739136
Entrez Id: 3779;30820
Gene Symbol: KCNMB1;KCNIP1
KCNMB1;KCNIP1
CUI: C0085580
Disease:
Essential Hypertension
0.020 GeneticVariation BEFREE The dominant model of KCNJ11 E23K and KCNMB1 E65K might be susceptible factors for essential hypertension. 31169684 2019
dbSNP: rs11739136
rs11739136
Entrez Id: 3779;30820
Gene Symbol: KCNMB1;KCNIP1
KCNMB1;KCNIP1
CUI: C0085580
Disease:
Essential Hypertension
0.020 GeneticVariation BEFREE Genotype and allele frequency analyses revealed that the frequency of genotypes KCNJ11-rs2285676 and KCNMB1-rs11739136 was not significantly different between the EH and NT groups. 28962116 2017
dbSNP: rs11739136
rs11739136
Entrez Id: 3779;30820
Gene Symbol: KCNMB1;KCNIP1
KCNMB1;KCNIP1
CUI: C0027051
Disease:
Myocardial Infarction
0.020 GeneticVariation BEFREE Moreover, the epidemiological studies showed that the presence of the E65K polymorphism in, e.g., BKCa beta1-subunit gene (producing a "gain-of-function") lowers the prevalence for severe hypertension and myocardial infarction. 20043229 2010
dbSNP: rs11739136
rs11739136
Entrez Id: 3779;30820
Gene Symbol: KCNMB1;KCNIP1
KCNMB1;KCNIP1
CUI: C0235222
Disease:
Diastolic hypertension
0.020 GeneticVariation BEFREE The rs11739136 KCNMB1 Glu65Lys polymorphism in the beta1 subunit of the Ca2+ and voltage-dependent potassium channel has, in some studies, been reported to associate with a protective effect on diastolic hypertension. 18854753 2008
dbSNP: rs11739136
rs11739136
Entrez Id: 3779;30820
Gene Symbol: KCNMB1;KCNIP1
KCNMB1;KCNIP1
CUI: C0027051
Disease:
Myocardial Infarction
0.020 GeneticVariation BEFREE Our study provides the first genetic evidence for the different impact of the BK channel in the control of human blood pressure in men and women, with particular relevance in aging women, and highlights the E65K polymorphism as one of the strongest genetic factors associated thus far to protection against myocardial infarction and stroke. 16293791 2005
dbSNP: rs11739136
rs11739136
Entrez Id: 3779;30820
Gene Symbol: KCNMB1;KCNIP1
KCNMB1;KCNIP1
CUI: C0235222
Disease:
Diastolic hypertension
0.020 GeneticVariation BEFREE Protective effect of the KCNMB1 E65K genetic polymorphism against diastolic hypertension in aging women and its relevance to cardiovascular risk. 16293791 2005
dbSNP: rs11739136
rs11739136
Entrez Id: 3779;30820
Gene Symbol: KCNMB1;KCNIP1
KCNMB1;KCNIP1
CUI: C0022658
Disease:
Kidney Diseases
0.010 GeneticVariation BEFREE The results suggest that profiling patients at Glu65Lys can assist in gauging renal prognosis as well as selection of rational therapy in hypertension with progressive renal disease. 20861615 2010
dbSNP: rs11739136
rs11739136
Entrez Id: 3779;30820
Gene Symbol: KCNMB1;KCNIP1
KCNMB1;KCNIP1
CUI: C0035078
Disease:
Kidney Failure
0.010 GeneticVariation BEFREE Common KCNMB1 gain-of-function variant Glu65Lys influences GFR, and 65Lys carriers exhibit not only elevated baseline GFR, but also more rapid GFR decline (and consequent development of renal failure) in CKD. 20861615 2010
dbSNP: rs11739136
rs11739136
Entrez Id: 3779;30820
Gene Symbol: KCNMB1;KCNIP1
KCNMB1;KCNIP1
CUI: C1561643
Disease:
Chronic Kidney Diseases
0.010 GeneticVariation BEFREE Common KCNMB1 gain-of-function variant Glu65Lys influences GFR, and 65Lys carriers exhibit not only elevated baseline GFR, but also more rapid GFR decline (and consequent development of renal failure) in CKD. 20861615 2010
dbSNP: rs11739136
rs11739136
Entrez Id: 3779;30820
Gene Symbol: KCNMB1;KCNIP1
KCNMB1;KCNIP1
CUI: C0027719
Disease:
Nephrosclerosis
0.010 GeneticVariation BEFREE We explored Glu65Lys effects on GFR in three populations spanning two ethnicities and two diseases (hypertension and nephrosclerosis). 20861615 2010
dbSNP: rs11739136
rs11739136
Entrez Id: 3779;30820
Gene Symbol: KCNMB1;KCNIP1
KCNMB1;KCNIP1
CUI: C0038454
Disease:
Cerebrovascular accident
0.010 GeneticVariation BEFREE Our study provides the first genetic evidence for the different impact of the BK channel in the control of human blood pressure in men and women, with particular relevance in aging women, and highlights the E65K polymorphism as one of the strongest genetic factors associated thus far to protection against myocardial infarction and stroke. 16293791 2005
dbSNP: rs11739136
rs11739136
Entrez Id: 3779;30820
Gene Symbol: KCNMB1;KCNIP1
KCNMB1;KCNIP1
CUI: C0007222
Disease:
Cardiovascular Diseases
0.010 GeneticVariation BEFREE We now report the modulatory effect of sex and age on the association of the E65K polymorphism with low prevalence of diastolic hypertension and the protective role of E65K polymorphism against cardiovascular disease. 16293791 2005