Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1217691063
rs1217691063
0.040 GeneticVariation BEFREE The methylenetetrahydrofolate reductase (MTHFR) 677C>T and 1298A>C polymorphisms, which are associated with hyperhomocysteinemia and nitric oxide (NO) deficiency (which is related to atherothrombosis and cerebral ischemia), have not been studied in moyamoya disease. 25098357

2014

dbSNP: rs1217691063
rs1217691063
0.040 GeneticVariation BEFREE The aim of this study is to determine the role of hereditary thrombophilic factors including factor V Leiden A1691G (FVL), prothrombin G20210A, and methylenetetrahydrofolate reductase (MTHFR) C677T gene mutations in patients with stroke because of cerebral infarct. 19263510

2009

dbSNP: rs1217691063
rs1217691063
0.040 GeneticVariation BEFREE Several cases with cerebral infarctions associated with the C677T mutation in the methylenetetrahydrofolate reductase gene (MTHFR) have been reported. 19068258

2009

dbSNP: rs1217691063
rs1217691063
0.040 GeneticVariation BEFREE The mutant MTHFR heterozygous 677C/T</span> carriers were increased in patients with cerebral infarction compared with controls (53.9% vs. 36.9%, 0.01 < P < 0.025). 10929044

2000

dbSNP: rs768963
rs768963
0.030 GeneticVariation BEFREE We found that rs768963 polymorphism was significantly more frequent in the CI group than in the non-CI group and the T-T-G-T haplotype of C795T-T924C-G1686A-rs768963 was significantly less frequent in the CI subjects (0.238 versus 0.339; OR 0.617 [95%CI 0.444-0.856]). 25557379

2015

dbSNP: rs768963
rs768963
0.030 GeneticVariation BEFREE However, there was a significant difference in the overall distribution of genotypes and dominant/recessive models of rs768963 between CI and control groups. 23456445

2013

dbSNP: rs768963
rs768963
0.030 GeneticVariation BEFREE Analysis demonstrated that there were significant differences in the overall distribution of genotypes and dominant or recessive models of rs2271875 and rs768963 between the CI and the non-CI groups. 17249521

2006

dbSNP: rs1800795
rs1800795
0.020 GeneticVariation BEFREE Further subgroup analyses showed that IL-6 rs1800795 was significantly associated with IS in Asians in GG versus GC + CC (dominant model, p = .0005, OR = 0.74, 95%CI 0.62-0.88), CC versus GG + GC (recessive model, p = .003, OR = 1.61, 95%CI 1.17-2.21) and G versus C (allele model, p = .01, OR = 0.74, 95%CI 0.58-0.93), whereas IL-10 rs1800896 polymorphism was significantly associated with cerebral infarction (CI) in GG versus GA + AA (dominant model, p = .02, OR = 2.04, 95%CI 1.14-3.64), GA versus GG + AA (overdominant model, p = .03, OR = 0.50, 95%CI 0.27-0.93) and G versus A (allele model, p = .01, OR = 1.92, 95%CI 1.16-3.17). 31446341

2019

dbSNP: rs1799889
rs1799889
0.020 GeneticVariation BEFREE Further subgroup analyses based on type of disease and ethnicity of participants suggested that the rs2227631 polymorphism was significantly associated with the risk of coronary artery disease in the dominant (95% CI 0.71-0.94) and allele (95% CI 0.80-0.94) models, whereas the rs1799889 polymorphism was significantly associated with the risk of myocardial infarction (dominant model: 95% CI 1.09-1.57; recessive model: 95% CI 0.71-0.96; allele model: 95% CI 1.05-1.28) and cerebral infarction (dominant model: 95% CI 1.68-3.51; additive model: 95% CI 0.39-0.77; allele model: 95% CI 1.23-2.00). 29908999

2018

dbSNP: rs2070744
rs2070744
0.020 GeneticVariation BEFREE The present study is the first to demonstrate that the C allele of the eNOS SNP 786 T->C rs2070744 is independently associated with an increased risk for delayed cerebral ischemia following aSAH. 28254540

2017

dbSNP: rs2241883
rs2241883
0.020 GeneticVariation BEFREE The human FABP1 T94A variant is associated with altered body mass index (BMI), clinical dyslipidemias (elevated plasma triglycerides and LDL cholesterol), atherothrombotic cerebral infarction, and non-alcoholic fatty liver disease (NAFLD). 27117865

2016

dbSNP: rs1800795
rs1800795
0.020 GeneticVariation BEFREE In conclusion, our study suggests that the CC genotype and C allele of the IL6 -174G/C (rs1800795) polymorphism are associated with an increased risk of cerebral infarction. 26662441

2015

dbSNP: rs4523
rs4523
0.020 GeneticVariation BEFREE We found that rs768963 polymorphism was significantly more frequent in the CI group than in the non-CI group and the T-T-G-T haplotype of C795T-T924C-G1686A-rs768963 was significantly less frequent in the CI subjects (0.238 versus 0.339; OR 0.617 [95%CI 0.444-0.856]). 25557379

2015

dbSNP: rs1799883
rs1799883
0.020 GeneticVariation BEFREE No significant difference in Ala54Thr genotypic distribution of FABP2 was observed between stroke group (CI subgroup, CH subgroup included) and controls group. 25262933

2014

dbSNP: rs1799889
rs1799889
0.020 GeneticVariation BEFREE The rs1799889 5G/5G genotype was associated with an increased risk of unfavourable outcome [odds ratio (OR) 1.69, 95 % confidence interval (CI) 1.03-2.78] and mortality (OR 2.20, 95 % CI 1.02-4.86) in white adults with pneumococcal meningitis. rs1799889 was associated with CSF PAI-1 concentrations (P = 0.048), and white patients homozygous for the low PAI-1 producing genotype (5G/5G) had a significantly higher risk for cerebral infarctions (P = 0.015) and haemorrhages (P = 0.005). 24248324

2014

dbSNP: rs9551963
rs9551963
0.020 GeneticVariation BEFREE However, after stratifying by smoking status, multivariate logistic regression analysis revealed that rs10507391 genotype TT/TA and rs9551963 genotype CC/CA had a 5.63-fold (OR=5.63, 95%CI=2.00-15.84, p=0.001) and a 2.71-fold (OR=2.71, 95%CI=1.28-5.73, p=0.009) increased risk for ACI patients who smoked compared with the AA genotype, respectively. 24411318

2014

dbSNP: rs4523
rs4523
0.020 GeneticVariation BEFREE Two SNPs, rs768963 and rs4523, located in the regulatory and coding regions of TXA2R gene, respectively, were examined in DNA samples from 407 Chinese patients with CI and 270 controls. 23456445

2013

dbSNP: rs9551963
rs9551963
0.020 GeneticVariation BEFREE In comparison to control groups, haplotype rs9315050&rs9551963 AAAC [OR (95% CI) = 1.53 (1.02-2.29)], and genotypes rs4147064 CT [OR (95% CI) = 1.872 (1.082-3.241)], and rs9551963 AC [OR (95% CI) = 2.015 (1.165-3.484)] increased the risk of cerebral infarction in patients with hypertension. 22849376

2012

dbSNP: rs4986790
rs4986790
0.020 GeneticVariation BEFREE This study was aimed to detect two commonly reported Asp299Gly and Thr399Ile polymorphisms in TLR4 gene in Hunan Han Chinese and their possible relationship with CI. 20504212

2010

dbSNP: rs4986791
rs4986791
0.020 GeneticVariation BEFREE This study was aimed to detect two commonly reported Asp299Gly and Thr399Ile polymorphisms in TLR4 gene in Hunan Han Chinese and their possible relationship with CI. 20504212

2010

dbSNP: rs1188383936
rs1188383936
F2
0.020 GeneticVariation BEFREE The aim of this study is to determine the role of hereditary thrombophilic factors including factor V Leiden A1691G (FVL), prothrombin G20210A, and methylenetetrahydrofolate reductase (MTHFR) C677T gene mutations in patients with stroke because of cerebral infarct. 19263510

2009

dbSNP: rs899127658
rs899127658
F2
0.020 GeneticVariation BEFREE The aim of this study is to determine the role of hereditary thrombophilic factors including factor V Leiden A1691G (FVL), prothrombin G20210A, and methylenetetrahydrofolate reductase (MTHFR) C677T gene mutations in patients with stroke because of cerebral infarct. 19263510

2009

dbSNP: rs1799883
rs1799883
0.020 GeneticVariation BEFREE Genotypes for these polymorphisms, especially for the 2445G-->A (Ala54Thr) polymorphism of FABP2, may prove informative for the prediction of genetic risk for atherothrombotic cerebral infarction among such individuals. 18506375

2008

dbSNP: rs2070744
rs2070744
0.020 GeneticVariation BEFREE The Chi-square test, multivariable logistic regression analysis with adjustment for age, sex, body mass index, and the prevalence of hypertension, hypercholesterolemia, and diabetes mellitus, as well as a stepwise forward selection procedure revealed that the 2445G-->A (Ala54Thr) polymorphism (rs1799883) of FABP2, the -108/3G-->4G polymorphism of IPF1 (S82168), the A-->G (Thr94Ala) polymorphism (rs2241883) of FABP1, the G-->A (Asp2213Asn) polymorphism (rs529038) of ROS1, the -11377C-->G polymorphism (rs266729) of ADIPOQ, the 162A-->C polymorphism (rs4769055) of ALOX5AP, the -786T-->C polymorphism (rs2070744) of NOS3, and the 3279C-->T polymorphism (rs7291467) of LGALS2 were associated (P<0.05) with the prevalence of atherothrombotic cerebral infarction. 18506375

2008

dbSNP: rs2241883
rs2241883
0.020 GeneticVariation BEFREE The Chi-square test, multivariable logistic regression analysis with adjustment for age, sex, body mass index, and the prevalence of hypertension, hypercholesterolemia, and diabetes mellitus, as well as a stepwise forward selection procedure revealed that the 2445G-->A (Ala54Thr) polymorphism (rs1799883) of FABP2, the -108/3G-->4G polymorphism of IPF1 (S82168), the A-->G (Thr94Ala) polymorphism (rs2241883) of FABP1, the G-->A (Asp2213Asn) polymorphism (rs529038) of ROS1, the -11377C-->G polymorphism (rs266729) of ADIPOQ, the 162A-->C polymorphism (rs4769055) of ALOX5AP, the -786T-->C polymorphism (rs2070744) of NOS3, and the 3279C-->T polymorphism (rs7291467) of LGALS2 were associated (P<0.05) with the prevalence of atherothrombotic cerebral infarction. 18506375

2008