rs7412, APOE

N. diseases: 47
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hyperlipoproteinemia Type III
CUI: C0020479
Disease: Hyperlipoproteinemia Type III
0.700 GeneticVariation UNIPROT
Coronary Artery Disease
CUI: C1956346
Disease: Coronary Artery Disease
0.730 GeneticVariation BEFREE CAD association was replicated and/or verified for 4 loci: SORT1 rs611917 (p=1.7 × 10(-8)), APOA5 rs662799 (p=0.0014), LDLR rs1433099 (p=2.1 × 10(-7)), and APOE rs7412 (p=6.1 × 10(-13)). 23050023 2012
Lipoprotein (a) measurement
CUI: C1096202
Disease: Lipoprotein (a) measurement
0.700 GeneticVariation GWASCAT A genome-wide association meta-analysis on lipoprotein (a) concentrations adjusted for apolipoprotein (a) isoforms. 28512139 2017
Low density lipoprotein cholesterol measurement
0.800 GeneticVariation GWASCAT A large electronic-health-record-based genome-wide study of serum lipids. 29507422 2018
Serum total cholesterol measurement
CUI: C1445957
Disease: Serum total cholesterol measurement
0.800 GeneticVariation GWASCAT A large electronic-health-record-based genome-wide study of serum lipids. 29507422 2018
Triglycerides measurement
CUI: C0202236
Disease: Triglycerides measurement
0.700 GeneticVariation GWASCAT A large electronic-health-record-based genome-wide study of serum lipids. 29507422 2018
High density lipoprotein measurement
0.700 GeneticVariation GWASCAT A large electronic-health-record-based genome-wide study of serum lipids. 29507422 2018
Longevity
CUI: C0023980
Disease: Longevity
0.700 GeneticVariation GWASCAT A meta-analysis of genome-wide association studies identifies multiple longevity genes. 31413261 2019
Cardiovascular Diseases
CUI: C0007222
Disease: Cardiovascular Diseases
0.710 GeneticVariation BEFREE A total of nine gene variants/polymorphisms - F5 (Leiden - R5 06Q, rs6025), F2 (20210G > A, rs1799963), F13A1 (V34L, rs5985), MTHFR (677C > T - A222V, rs1801133), MTHFR (1298A > C - E429A, rs1801131), FGB (-455G > A -c.-463G > A; rs1800790), SERPINE1 (PAI14G/5G - rs1799889), ACE (ACE I/D, rs1799752), ITGB3 (GPIIIa L33P, rs5918) and the APOE E2/E3/E4 alleles (rs7412, rs429358) - were genotyped in 200 newly diagnosed ischemic stroke (IS) patients, 165 patients with ischemic coronary heart disease (CHD) and 159 controls with no cerebroor cardiovascular disease (non-CVD). 27629735 2016
Ischemic stroke
CUI: C0948008
Disease: Ischemic stroke
0.010 GeneticVariation BEFREE A total of nine gene variants/polymorphisms - F5 (Leiden - R5 06Q, rs6025), F2 (20210G > A, rs1799963), F13A1 (V34L, rs5985), MTHFR (677C > T - A222V, rs1801133), MTHFR (1298A > C - E429A, rs1801131), FGB (-455G > A -c.-463G > A; rs1800790), SERPINE1 (PAI14G/5G - rs1799889), ACE (ACE I/D, rs1799752), ITGB3 (GPIIIa L33P, rs5918) and the APOE E2/E3/E4 alleles (rs7412, rs429358) - were genotyped in 200 newly diagnosed ischemic stroke (IS) patients, 165 patients with ischemic coronary heart disease (CHD) and 159 controls with no cerebroor cardiovascular disease (non-CVD). 27629735 2016
Dyslipidemias
CUI: C0242339
Disease: Dyslipidemias
0.010 GeneticVariation BEFREE After taking into account confounding factors and correcting for multiple comparisons only APOE rs429358 and rs7412 variants remained significantly associated with risk of dyslipidemia. 26043189 2015
Coronary Artery Disease
CUI: C1956346
Disease: Coronary Artery Disease
0.730 GeneticVariation BEFREE Aim was to estimate the genotypic distribution and risk allele frequencies of 13 Coronary Artery Disease (CAD) risk Single Nucleotide Polymorphisms in loci identified by the CARDIoGRAMplusC4D consortium namely MIA3 rs17465637; 9p21 rs10757274; CXCL12 rs1746048; APOA5 rs662799; APOB rs1042031; LPA rs3798220; LPA 10455872; MRAS rs9818870; LPL rs328; SORT1 rs646776; PCSK9 rs11591147; APOE rs429358; APOE rs7412 in Pakistani PCAD patients and controls. 28705542 2019
Diabetic Nephropathy
CUI: C0011881
Disease: Diabetic Nephropathy
0.010 GeneticVariation BEFREE Analyses showed no significant effects of APOE rs7412 and APOE rs429358 on the frequencies of the allele and genotype between subjects with T2D with and without DN. 21689001 2011
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.720 GeneticVariation BEFREE APOE gene comprises of three alleles determined by two single nucleotide polymorphisms (rs429358 and rs7412) resulting in the protein isoforms, among which ApoE4 is a confirmed risk factor for Alzheimer's Disease. 29776682 2018
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.720 GeneticVariation BEFREE Apolipoprotein E (APOE) genotype (ε2/ε3/ε4: rs429358 ε4 allele; rs7412 ε2 allele) is strongly associated with both lipid levels and Alzheimer's disease. 21215387 2011
Coronary Artery Disease
CUI: C1956346
Disease: Coronary Artery Disease
0.730 GeneticVariation GWASCAT Association analyses based on false discovery rate implicate new loci for coronary artery disease. 28714975 2017
Low density lipoprotein cholesterol measurement
0.800 GeneticVariation GWASCAT Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels. 28334899 2017
Serum total cholesterol measurement
CUI: C1445957
Disease: Serum total cholesterol measurement
0.800 GeneticVariation GWASCAT Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels. 28334899 2017
Blood Protein Measurement
CUI: C2985280
Disease: Blood Protein Measurement
0.700 GeneticVariation GWASCAT Co-regulatory networks of human serum proteins link genetics to disease. 30072576 2018
Cerebral Vasospasm
CUI: C0265110
Disease: Cerebral Vasospasm
0.010 GeneticVariation BEFREE Data included demographic information, genetic sampling for the APOE gene and single-nucleotide polymorphisms (SNPs; rs405509, rs429358, rs7412), and daily transcranial Doppler ultrasounds to evaluate for CV. 29996665 2018
Multiple Sclerosis
CUI: C0026769
Disease: Multiple Sclerosis
0.020 GeneticVariation BEFREE Despite sufficient power to detect associations at genome-wide significance thresholds across a range of ORs, our analyses did not support a role of rs429358 or rs7412 on MS susceptibility. 22972946 2012
Osteopenia
CUI: C0029453
Disease: Osteopenia
0.010 GeneticVariation BEFREE Disease association analysis revealed a susceptibility haplotype CGTC (in order of rs440446, rs769450, rs429358, rs7412) and the carriers of this haplotype has higher risk of osteopenia (OR 3.53, 95% CI 1.21-11.0, P=0.017) and osteoporosis (OR 3.61, 95% CI 1.53-9.48, P=0.002) after adjusting the confounding effect of age, BMI and years since menopause. 20663622 2010
Osteoporosis
CUI: C0029456
Disease: Osteoporosis
0.010 GeneticVariation BEFREE Disease association analysis revealed a susceptibility haplotype CGTC (in order of rs440446, rs769450, rs429358, rs7412) and the carriers of this haplotype has higher risk of osteopenia (OR 3.53, 95% CI 1.21-11.0, P=0.017) and osteoporosis (OR 3.61, 95% CI 1.53-9.48, P=0.002) after adjusting the confounding effect of age, BMI and years since menopause. 20663622 2010
Coronary Artery Disease
CUI: C1956346
Disease: Coronary Artery Disease
0.730 GeneticVariation GWASCAT Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies. 30104761 2018
Serum total cholesterol measurement
CUI: C1445957
Disease: Serum total cholesterol measurement
0.800 GeneticVariation GWASCAT Exploration of haplotype research consortium imputation for genome-wide association studies in 20,032 Generation Scotland participants. 28270201 2017