|
rs387906613
|
GJA5;LOC102723321
|
ATRIAL FIBRILLATION, FAMILIAL, 11
|
|
0.800 |
GeneticVariation |
UNIPROT |
Novel connexin40 missense mutations in patients with familial atrial fibrillation.
|
20650941 |
2010 |
|
rs387906614
|
GJA5;LOC102723321
|
ATRIAL FIBRILLATION, FAMILIAL, 11
|
|
0.800 |
GeneticVariation |
UNIPROT |
Novel connexin40 missense mutations in patients with familial atrial fibrillation.
|
20650941 |
2010 |
|
rs387906615
|
GJA5;LOC102723321
|
ATRIAL FIBRILLATION, FAMILIAL, 11
|
|
0.800 |
GeneticVariation |
UNIPROT |
Novel connexin40 missense mutations in patients with familial atrial fibrillation.
|
20650941 |
2010 |
|
rs387906613
|
GJA5;LOC102723321
|
ATRIAL FIBRILLATION, FAMILIAL, 11
|
T |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
|
rs387906614
|
GJA5;LOC102723321
|
ATRIAL FIBRILLATION, FAMILIAL, 11
|
T |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
|
rs387906615
|
GJA5;LOC102723321
|
ATRIAL FIBRILLATION, FAMILIAL, 11
|
T |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
|
rs10465885
|
GJA5;LOC102723321
|
Atrial Fibrillation
|
C |
0.710 |
GeneticVariation |
GWASCAT |
Biobank-driven genomic discovery yields new insight into atrial fibrillation biology.
|
30061737 |
2018 |
|
rs10465885
|
GJA5;LOC102723321
|
Atrial Fibrillation
|
|
0.710 |
GeneticVariation |
BEFREE |
Both rs35594137 and rs10465885 were tested for association with early-onset lone AF (≤60 years of age) in 384 cases and 3010 population control subjects. rs10465885 was associated with the AF phenotype (odds ratio, 1.18; P=0.046).
|
21076161 |
2011 |
|
rs121434557
|
GJA5;LOC102723321
|
ATRIAL STANDSTILL 1
|
|
0.700 |
GeneticVariation |
UNIPROT |
|
|
|
|
rs121434558
|
GJA5;LOC102723321
|
ATRIAL FIBRILLATION, SOMATIC
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs121434558
|
GJA5;LOC102723321
|
ATRIAL STANDSTILL 1
|
|
0.700 |
GeneticVariation |
UNIPROT |
|
|
|
|
rs387906612
|
GJA5;LOC102723321
|
ATRIAL FIBRILLATION, FAMILIAL, 11
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs587777304
|
GJA5;LOC102723321
|
ATRIAL FIBRILLATION, FAMILIAL, 11
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs35594137
|
GJA5;LOC102723321
|
Atrial Fibrillation
|
|
0.030 |
GeneticVariation |
BEFREE |
Genetic model analysis shown that the minor allele T of GJA5 rs35594137 was associated with a decreased AF risk under the recessive model (OR = 0.40; 95% CI: 0.19-0.86; p = 0.018) and the minor allele G of KCNJ2 rs8079702 was associated with an increased AF risk in the recessive model (OR = 2.31; 95% CI: 1.20-4.42; p = 0.012).
|
31270966 |
2019 |
|
rs35594137
|
GJA5;LOC102723321
|
Atrial Fibrillation
|
|
0.030 |
GeneticVariation |
BEFREE |
Cx 40 (rs35594137) differences between AF </span>and control groups of Han origin were not significant (P > 0.05), but were statistically significant in the Uygur population (P < 0.05).
|
26634538 |
2015 |
|
rs35594137
|
GJA5;LOC102723321
|
Atrial Fibrillation
|
|
0.030 |
GeneticVariation |
BEFREE |
Both rs35594137 and rs10465885 were tested for association with early-onset lone AF (≤60 years of age) in 384 cases and 3010 population control subjects. rs10465885 was associated with the AF phenotype (odds ratio, 1.18; P=0.046).
|
21076161 |
2011 |
|
rs121434558
|
GJA5;LOC102723321
|
Atrial Fibrillation
|
|
0.010 |
GeneticVariation |
BEFREE |
The A96S, G38D, and P88S Cx40 mutations slow conduction and increased the propensity for inducible AF.
|
28457700 |
2018 |
|
rs10465885
|
GJA5;LOC102723321
|
Ventricular Septal Defects
|
|
0.010 |
GeneticVariation |
BEFREE |
In multivariate analysis, preoperative digoxin exposure (odds ratio [OR] 2.4, 95% confidence interval [CI] 1.3-4.4), aortic cross-clamp time (OR 1.08, 95% CI 1.04-1.11), ventricular septal defect closure (OR 2.2, 95% CI 1.2-4.1), and a common polymorphism in the gene encoding connexin-40 (GJA5 rs10465885 TT genotype; OR 2.1, 95% CI 1.2-3.8) were independently associated with postoperative CHB.
|
27826129 |
2017 |
|
rs10465885
|
GJA5;LOC102723321
|
Complete atrioventricular block
|
|
0.010 |
GeneticVariation |
BEFREE |
In multivariate analysis, preoperative digoxin exposure (odds ratio [OR] 2.4, 95% confidence interval [CI] 1.3-4.4), aortic cross-clamp time (OR 1.08, 95% CI 1.04-1.11), ventricular septal defect closure (OR 2.2, 95% CI 1.2-4.1), and a common polymorphism in the gene encoding connexin-40 (GJA5 rs10465885 TT genotype; OR 2.1, 95% CI 1.2-3.8) were independently associated with postoperative CHB.
|
27826129 |
2017 |
|
rs587745372
|
GJA5;LOC102723321
|
Arteriosclerosis
|
|
0.010 |
GeneticVariation |
BEFREE |
Using known biomedical SNP markers, we identified 17 novel candidate SNP markers nearby: rs549858786 (rheumatoid arthritis); rs72661131 (cardiovascular events in rheumatoid arthritis); rs562962093 (stroke); rs563558831 (cyclophosphamide bioactivation); rs55878706 (malaria resistance, leukopenia), rs572527200 (asthma, systemic sclerosis, and psoriasis), rs371045754 (hemophilia B), rs587745372 (cardiovascular events); rs372329931, rs200209906, rs367732974, and rs549591993 (all four: cancer); rs17231520 and rs569033466 (both: atherosclerosis); rs63750953, rs281864525, and rs34166473 (all three: malaria resistance, thalassemia).
|
26516624 |
2015 |
|
rs587745372
|
GJA5;LOC102723321
|
Atherosclerosis
|
|
0.010 |
GeneticVariation |
BEFREE |
Using known biomedical SNP markers, we identified 17 novel candidate SNP markers nearby: rs549858786 (rheumatoid arthritis); rs72661131 (cardiovascular events in rheumatoid arthritis); rs562962093 (stroke); rs563558831 (cyclophosphamide bioactivation); rs55878706 (malaria resistance, leukopenia), rs572527200 (asthma, systemic sclerosis, and psoriasis), rs371045754 (hemophilia B), rs587745372 (cardiovascular events); rs372329931, rs200209906, rs367732974, and rs549591993 (all four: cancer); rs17231520 and rs569033466 (both: atherosclerosis); rs63750953, rs281864525, and rs34166473 (all three: malaria resistance, thalassemia).
|
26516624 |
2015 |
|
rs587745372
|
GJA5;LOC102723321
|
Hemophilia B
|
|
0.010 |
GeneticVariation |
BEFREE |
Using known biomedical SNP markers, we identified 17 novel candidate SNP markers nearby: rs549858786 (rheumatoid arthritis); rs72661131 (cardiovascular events in rheumatoid arthritis); rs562962093 (stroke); rs563558831 (cyclophosphamide bioactivation); rs55878706 (malaria resistance, leukopenia), rs572527200 (asthma, systemic sclerosis, and psoriasis), rs371045754 (hemophilia B), rs587745372 (cardiovascular events); rs372329931, rs200209906, rs367732974, and rs549591993 (all four: cancer); rs17231520 and rs569033466 (both: atherosclerosis); rs63750953, rs281864525, and rs34166473 (all three: malaria resistance, thalassemia).
|
26516624 |
2015 |
|
rs587745372
|
GJA5;LOC102723321
|
Rheumatoid Arthritis
|
|
0.010 |
GeneticVariation |
BEFREE |
Using known biomedical SNP markers, we identified 17 novel candidate SNP markers nearby: rs549858786 (rheumatoid arthritis); rs72661131 (cardiovascular events in rheumatoid arthritis); rs562962093 (stroke); rs563558831 (cyclophosphamide bioactivation); rs55878706 (malaria resistance, leukopenia), rs572527200 (asthma, systemic sclerosis, and psoriasis), rs371045754 (hemophilia B), rs587745372 (cardiovascular events); rs372329931, rs200209906, rs367732974, and rs549591993 (all four: cancer); rs17231520 and rs569033466 (both: atherosclerosis); rs63750953, rs281864525, and rs34166473 (all three: malaria resistance, thalassemia).
|
26516624 |
2015 |
|
rs587745372
|
GJA5;LOC102723321
|
Primary malignant neoplasm
|
|
0.010 |
GeneticVariation |
BEFREE |
Using known biomedical SNP markers, we identified 17 novel candidate SNP markers nearby: rs549858786 (rheumatoid arthritis); rs72661131 (cardiovascular events in rheumatoid arthritis); rs562962093 (stroke); rs563558831 (cyclophosphamide bioactivation); rs55878706 (malaria resistance, leukopenia), rs572527200 (asthma, systemic sclerosis, and psoriasis), rs371045754 (hemophilia B), rs587745372 (cardiovascular events); rs372329931, rs200209906, rs367732974, and rs549591993 (all four: cancer); rs17231520 and rs569033466 (both: atherosclerosis); rs63750953, rs281864525, and rs34166473 (all three: malaria resistance, thalassemia).
|
26516624 |
2015 |
|
rs587745372
|
GJA5;LOC102723321
|
Cerebrovascular accident
|
|
0.010 |
GeneticVariation |
BEFREE |
Using known biomedical SNP markers, we identified 17 novel candidate SNP markers nearby: rs549858786 (rheumatoid arthritis); rs72661131 (cardiovascular events in rheumatoid arthritis); rs562962093 (stroke); rs563558831 (cyclophosphamide bioactivation); rs55878706 (malaria resistance, leukopenia), rs572527200 (asthma, systemic sclerosis, and psoriasis), rs371045754 (hemophilia B), rs587745372 (cardiovascular events); rs372329931, rs200209906, rs367732974, and rs549591993 (all four: cancer); rs17231520 and rs569033466 (both: atherosclerosis); rs63750953, rs281864525, and rs34166473 (all three: malaria resistance, thalassemia).
|
26516624 |
2015 |