APOB, apolipoprotein B, 338

N. diseases: 339; N. variants: 122
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs13306190
rs13306190
Entrez Id: 338
Gene Symbol: APOB
APOB
CUI: C0494463
Disease:
Alzheimer Disease, Late Onset
0.010 GeneticVariation BEFREE APOE, MTHFR A1298C and BDNF C270T polymorphisms may be associated with LOAD and BDNF and MTHFR alleles may play a role in the age at onset of the LOAD. 31102717 2019
dbSNP: rs151009667
rs151009667
Entrez Id: 338
Gene Symbol: APOB
APOB
CUI: C0745103
Disease:
Hyperlipoproteinemia Type IIa
0.010 GeneticVariation BEFREE There was also no correlation between clinical characteristics and the rs151009667 polymorphism.In conclusion, we confirmed the association between the rs151009667 polymorphism and FH in a Saudi population. 30681615 2019
dbSNP: rs151009667
rs151009667
Entrez Id: 338
Gene Symbol: APOB
APOB
CUI: C0020445
Disease:
Hypercholesterolemia, Familial
0.010 GeneticVariation BEFREE There was also no correlation between clinical characteristics and the rs151009667 polymorphism.In conclusion, we confirmed the association between the rs151009667 polymorphism and FH in a Saudi population. 30681615 2019
dbSNP: rs693
rs693
Entrez Id: 338
Gene Symbol: APOB
APOB
CUI: C0745103
Disease:
Hyperlipoproteinemia Type IIa
0.010 GeneticVariation BEFREE In this case-control study, rs693 (in exon 26 of APOB) and rs515135 (5 'end of APOB) single nucleotide polymorphisms (SNPs) were analyzed in 120 cases of familial hypercholesterolemia and 120 controls. 30507093 2019
dbSNP: rs693
rs693
Entrez Id: 338
Gene Symbol: APOB
APOB
CUI: C0020445
Disease:
Hypercholesterolemia, Familial
0.010 GeneticVariation BEFREE In this case-control study, rs693 (in exon 26 of APOB) and rs515135 (5 'end of APOB) single nucleotide polymorphisms (SNPs) were analyzed in 120 cases of familial hypercholesterolemia and 120 controls. 30507093 2019
dbSNP: rs1042034
rs1042034
Entrez Id: 338
Gene Symbol: APOB
APOB
CUI: C0019196
Disease:
Hepatitis C
0.010 GeneticVariation BEFREE An APOB SNP, rs1042034, is closely associated with HCV infection through lipid metabolism alteration. 29382324 2018
dbSNP: rs13306190
rs13306190
Entrez Id: 338
Gene Symbol: APOB
APOB
CUI: C0398623
Disease:
Thrombophilia
0.010 GeneticVariation BEFREE All participants underwent screening for thrombophilia-associated polymorphisms including factor V Leiden (FVL), prothrombin G20210A (PTG), factor V H1299 R (factor V HR2), factor XIII V34 L, β-fibrinogen-455 G>A, plasminogen activator inhibitor-1 4G/5G, human platelet antigen-1 a/b, methylene tetrahydrofolate reductase (MTHFR) C677 T, MTHFR A1298C, angiotensin-converting enzyme I/D, apolipoprotein B R3500Q, and apolipoprotein E (Apo E). 27729560 2018
dbSNP: rs13306190
rs13306190
Entrez Id: 338
Gene Symbol: APOB
APOB
CUI: C0584960
Disease:
Factor V Leiden mutation
0.010 GeneticVariation BEFREE Compared to controls, patients with isolated DVT, DVT plus PE, and isolated PE showed significantly higher frequencies for the following-heterozygous FVL mutation, isolated DVT (28.3%), DVT plus PE (44.2%), isolated PE (50%), controls (8.3%; P < .001); heterozygous PTG mutation, isolated DVT (11.3%), DVT plus PE (20.9%), isolated PE (25%), controls (5.9%; P < .01); Apo E 2/4, isolated DVT (9.7%), DVT plus PE (9.3%), isolated PE (5%), controls (1%; P < .01).The MTHFR A1298C mutation showed a significantly higher frequency in isolated patients with PE than in those with isolated DVT ( P = .006) and in controls ( P = .008). 27729560 2018
dbSNP: rs13306190
rs13306190
Entrez Id: 338
Gene Symbol: APOB
APOB
CUI: C0149871
Disease:
Deep Vein Thrombosis
0.010 GeneticVariation BEFREE Compared to controls, patients with isolated DVT, DVT plus PE, and isolated PE showed significantly higher frequencies for the following-heterozygous FVL mutation, isolated DVT (28.3%), DVT plus PE (44.2%), isolated PE (50%), controls (8.3%; P < .001); heterozygous PTG mutation, isolated DVT (11.3%), DVT plus PE (20.9%), isolated PE (25%), controls (5.9%; P < .01); Apo E 2/4, isolated DVT (9.7%), DVT plus PE (9.3%), isolated PE (5%), controls (1%; P < .01).The MTHFR A1298C mutation showed a significantly higher frequency in isolated patients with PE than in those with isolated DVT ( P = .006) and in controls ( P = .008). 27729560 2018
dbSNP: rs1801702
rs1801702
Entrez Id: 338
Gene Symbol: APOB
APOB
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent
0.010 GeneticVariation BEFREE In addition, rs1801702 in APOB was associated with total cholesterol and LDL-C (P = 0.019 and P = 0.020, respectively) in normoglycemic individuals; rs3732083 in GPR1 with HOMA-IR (P = 0.016) and rs9624 in TPPP2 with total cholesterol and triglycerides (P = 0.002 and P = 0.005, respectively) in T2D subjects. 29948331 2018
dbSNP: rs183117027
rs183117027
Entrez Id: 338
Gene Symbol: APOB
APOB
CUI: C1832661
Disease:
ANOPHTHALMIA AND PULMONARY HYPOPLASIA
0.010 GeneticVariation BEFREE We identify three low-frequency missense variants associated with the PDAC risk: rs34309238 in PKN1 (OR = 1.77, 95% CI: 1.48-2.12, P = 5.35 × 10<sup>-10</sup>), rs2242241 in DOK2 (OR = 1.85, 95% CI: 1.50-2.27, P = 4.34 × 10<sup>-9</sup>), and rs183117027 in APOB (OR = 2.34, 95% CI: 1.72-3.16, P = 4.21 × 10<sup>-8</sup>). 30206226 2018
dbSNP: rs5742904
rs5742904
Entrez Id: 338
Gene Symbol: APOB
APOB
CUI: C0398623
Disease:
Thrombophilia
0.010 GeneticVariation BEFREE All participants underwent screening for thrombophilia-associated polymorphisms including factor V Leiden (FVL), prothrombin G20210A (PTG), factor V H1299 R (factor V HR2), factor XIII V34 L, β-fibrinogen-455 G>A, plasminogen activator inhibitor-1 4G/5G, human platelet antigen-1 a/b, methylene tetrahydrofolate reductase (MTHFR) C677 T, MTHFR A1298C, angiotensin-converting enzyme I/D, apolipoprotein B R3500Q, and apolipoprotein E (Apo E). 27729560 2018
dbSNP: rs5742904
rs5742904
Entrez Id: 338
Gene Symbol: APOB
APOB
CUI: C0005586
Disease:
Bipolar Disorder
0.010 GeneticVariation BEFREE We identified a set of Mendelian variants that co-occur in individuals with BD more frequently than their unaffected family members, including the R3527Q mutation in APOB associated with hypercholesterolemia. 30315151 2018
dbSNP: rs673548
rs673548
Entrez Id: 338
Gene Symbol: APOB
APOB
CUI: C0948008
Disease:
Ischemic stroke
0.010 GeneticVariation BEFREE In the allele model, <i>ApoB</i> rs1042034 "T" allele and rs673548 "G" allele increased the risk of the Ischemic Stroke (rs1042034: OR=1.29, 95%CI: 1.02-1.63, p=0.030; rs6735</span>48: OR=1.28, 95%CI: 1.02-1.62, p=0.034). 29416768 2018
dbSNP: rs679899
rs679899
Entrez Id: 338
Gene Symbol: APOB
APOB
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent
0.010 GeneticVariation BEFREE This study suggests that the APOB polymorphism rs679899 is associated with type 2 diabetes and GGT levels, while the LIPC polymorphism rs6083 may influence CHOL, TG, and LDL levels in Chinese Han population. 29883758 2018
dbSNP: rs693
rs693
Entrez Id: 338
Gene Symbol: APOB
APOB
CUI: C0750927
Disease:
Apraxia, Developmental Verbal
0.010 GeneticVariation BEFREE Both rs693 and rs6725189 of the apoB gene are associated with CAS in Chinese subjects, in Xinjiang, China. 29514644 2018
dbSNP: rs693
rs693
Entrez Id: 338
Gene Symbol: APOB
APOB
CUI: C0007222
Disease:
Cardiovascular Diseases
0.010 GeneticVariation BEFREE Lipid metabolism alterations contribute to acute coronary syndrome (ACS). rs670, rs5070 and rs693 polymorphisms have shown to modify the risk of cardiovascular disease. 28992985 2018
dbSNP: rs693
rs693
Entrez Id: 338
Gene Symbol: APOB
APOB
CUI: C0742343
Disease:
Acute Chest Syndrome
0.010 GeneticVariation BEFREE The rs670, rs5070 and rs693 polymorphisms are not genetic susceptibility factors for ACS in Mexican population and had no effect on their apolipoprotein concentrations. 28992985 2018
dbSNP: rs693
rs693
Entrez Id: 338
Gene Symbol: APOB
APOB
CUI: C0948089
Disease:
Acute Coronary Syndrome
0.010 GeneticVariation BEFREE Lipid metabolism alterations contribute to acute coronary syndrome (ACS). rs670, rs5070 and rs693 polymorphisms have shown to modify the risk of cardiovascular disease. 28992985 2018
dbSNP: rs693
rs693
Entrez Id: 338
Gene Symbol: APOB
APOB
CUI: C1956346
Disease:
Coronary Artery Disease
0.010 GeneticVariation BEFREE This study aimed to verify the possible influence of apolipoprotein B (ApoB: rs1042031 and rs693) and angiotensin-converting enzyme (ACE-ID: rs1799752) genotypes on the lipid profile and functional aerobic capacity, respectively, after an aerobic interval training (AIT) program in patients with CAD and/or cardiovascular risk factors. 29846435 2018
dbSNP: rs1042031
rs1042031
Entrez Id: 338
Gene Symbol: APOB
APOB
CUI: C0948008
Disease:
Ischemic stroke
0.010 GeneticVariation BEFREE The pooled data indicated that all genetic models of APOA5 rs662799 (ORs = 1.23-1.43), allelic and over-dominant models of APOA5 rs3135506 (ORs = 1.77-1.97), APOB rs1801701 (ORs = 1.72-2.13) and APOB rs1042031 (ORs = 1.66-1.88) as well as dominant model of ABCA1 rs2230806 (OR = 1.31) were significantly associated with higher risk of ischemic stroke. 28865324 2017
dbSNP: rs1042034
rs1042034
Entrez Id: 338
Gene Symbol: APOB
APOB
CUI: C0020473
Disease:
Hyperlipidemia
0.010 GeneticVariation BEFREE The A allele of rs1042034 and the G allele of rs676210 may thus predispose middle-aged and elderly members of the Chinese Yugur population to HL in combination with other genetic or nutritional factors, and could be used as new genetic markers for HL screening. 28902930 2017
dbSNP: rs1800479
rs1800479
Entrez Id: 338
Gene Symbol: APOB
APOB
CUI: C0042693
Disease:
Violence
0.010 GeneticVariation BEFREE In this study we investigated the association of 40 bp VNTR polymorphism of DAT-1 and Taq1 variant of DRD2 gene (rs1800479) with criminal behavior and self-reported aggression in 729 subjects, including 370 men in Pakistani prisons convicted of first degree murder(s) and 359 control men without any history of violence or criminal tendency. 28582390 2017
dbSNP: rs1801701
rs1801701
Entrez Id: 338
Gene Symbol: APOB
APOB
CUI: C0948008
Disease:
Ischemic stroke
0.010 GeneticVariation BEFREE The pooled data indicated that all genetic models of APOA5 rs662799 (ORs = 1.23-1.43), allelic and over-dominant models of APOA5 rs3135506 (ORs = 1.77-1.97), APOB rs1801701 (ORs = 1.72-2.13) and APOB rs1042031 (ORs = 1.66-1.88) as well as dominant model of ABCA1 rs2230806 (OR = 1.31) were significantly associated with higher risk of ischemic stroke. 28865324 2017
dbSNP: rs676210
rs676210
Entrez Id: 338
Gene Symbol: APOB
APOB
CUI: C0020473
Disease:
Hyperlipidemia
0.010 GeneticVariation BEFREE The risk factors age (P=0.008), body mass index (P<0.0001), GA+GG genotype in rs676210 (P=0.009), and alcohol consumption (P=0.056) contributed strongly to HL development. 28902930 2017