Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs3764650
rs3764650
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.900 GeneticVariation GWASDB Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease. 21460840

2011

dbSNP: rs3764650
rs3764650
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.900 GeneticVariation BEFREE Meta-analyses of all data provided compelling evidence that ABCA7 (rs3764650, meta P = 4.5 × 10(-17); including ADGC data, meta P = 5.0 × 10(-21)) and the MS4A gene cluster (rs610932, meta P = 1.8 × 10(-14); including ADGC data, meta P = 1.2 × 10(-16)) are new Alzheimer's disease susceptibility loci. 21460840

2011

dbSNP: rs3764650
rs3764650
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.900 GeneticVariation GWASCAT Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease. 21460840

2011

dbSNP: rs3752246
rs3752246
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
G 0.850 GeneticVariation GWASDB Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease. 21460841

2011

dbSNP: rs3752246
rs3752246
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
G 0.850 GeneticVariation GWASCAT Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease. 21460841

2011

dbSNP: rs3752246
rs3752246
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.850 GeneticVariation BEFREE The novel ABCA7 SNP, rs3752246, tended to be associated with AD in our study. 23556446

2013

dbSNP: rs115550680
rs115550680
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
G 0.830 GeneticVariation GWASCAT Genome-wide significance in fully adjusted models (sex, age, APOE genotype, population stratification) was observed for a SNP in ABCA7 (rs115550680, allele = G; frequency, 0.09 cases and 0.06 controls; odds ratio [OR], 1.79 [95% CI, 1.47-2.12]; P = 2.2 × 10(-9)), which is in linkage disequilibrium with SNPs previously associated with Alzheimer disease in Europeans (0.8 < D' < 0.9). 23571587

2013

dbSNP: rs115550680
rs115550680
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
G 0.830 GeneticVariation GWASDB Genome-wide significance in fully adjusted models (sex, age, APOE genotype, population stratification) was observed for a SNP in ABCA7 (rs115550680, allele = G; frequency, 0.09 cases and 0.06 controls; odds ratio [OR], 1.79 [95% CI, 1.47-2.12]; P = 2.2 × 10(-9)), which is in linkage disequilibrium with SNPs previously associated with Alzheimer disease in Europeans (0.8 < D' < 0.9). 23571587

2013

dbSNP: rs115550680
rs115550680
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.830 GeneticVariation BEFREE Genome-wide significance in fully adjusted models (sex, age, APOE genotype, population stratification) was observed for a SNP in ABCA7 (rs115550680, allele = G; frequency, 0.09 cases and 0.06 controls; odds ratio [OR], 1.79 [95% CI, 1.47-2.12]; P = 2.2 × 10(-9)), which is in linkage disequilibrium with SNPs previously associated with Alzheimer disease in Europeans (0.8 < D' < 0.9). 23571587

2013

dbSNP: rs3764650
rs3764650
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.900 GeneticVariation BEFREE Besides the previously reported APOE and CR1 loci, we found that the ABCA7 (rs3764650; P = .02) and CD2AP (rs9349407; P = .03) AD susceptibility loci are associated with neuritic plaque burden. 23836404

2013

dbSNP: rs3764650
rs3764650
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.900 GeneticVariation BEFREE Recently, a large genome-wide association study has revealed that polymorphism of alleles and genotypes in rs3,764,650 within ABCA7 gene is associated with Alzheimer disease in whites. 24113560

2015

dbSNP: rs4147929
rs4147929
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
A 0.860 GeneticVariation GWASCAT Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease. 24162737

2013

dbSNP: rs4147929
rs4147929
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
A 0.860 GeneticVariation GWASDB Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease. 24162737

2013

dbSNP: rs3752232
rs3752232
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.010 GeneticVariation BEFREE There were four significant associations between genotypes and phenotypes of AD patients: CR1 SNP rs11803956 correlated with Mini-Mental State Examination (MMSE) score (β=1.718, Pcorrected=0.002); ABCA7 SNP rs3752232 correlated with Rey Complex Figure Test (RCFT) copy score (β=-6.861, Pcorrected=0.013); APOE SNP rs2075650 correlated with the percentile of RCFT copy score (β=14.005, Pcorrected=0.021) and the percentile of total score in phonemic fluency (β=11.052, Pcorrected=0.035). 24530172

2014

dbSNP: rs3764650
rs3764650
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.900 GeneticVariation BEFREE We observed a significant association between rs3764650 and AD using the allele (P = 1.76E - 26, odds ratio (OR) = 1.21, 95 % confidence interval (CI) 1.17-1.26), dominant (P = 4.00E - 04, OR = 1.17, 95 % CI 1.07-1.28), recessive (P = 3.00E - 03, OR = 1.43, 95 % CI 1.13-1.81), and additive models (P = 3.00E - 03, OR = 1.49, 95 % CI 1.16-1.91). 24643655

2014

dbSNP: rs4147929
rs4147929
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.860 GeneticVariation BEFREE Large-scale genome-wide association studies (GWAS) have revealed that the ABCA7 rs3764650 polymorphism (or its proxies, namely rs115550680, rs3752246, and rs4147929) is associated with Alzheimer's disease (AD) susceptibility in individuals of Caucasian ancestry. 24643655

2014

dbSNP: rs3752246
rs3752246
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.850 GeneticVariation BEFREE Large-scale genome-wide association studies (GWAS) have revealed that the ABCA7 rs3764650 polymorphism (or its proxies, namely rs115550680, rs3752246, and rs4147929) is associated with Alzheimer's disease (AD) susceptibility in individuals of Caucasian ancestry. 24643655

2014

dbSNP: rs115550680
rs115550680
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.830 GeneticVariation BEFREE Large-scale genome-wide association studies (GWAS) have revealed that the ABCA7 rs3764650 polymorphism (or its proxies, namely rs115550680, rs3752246, and rs4147929) is associated with Alzheimer's disease (AD) susceptibility in individuals of Caucasian ancestry. 24643655

2014

dbSNP: rs3764650
rs3764650
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.900 GeneticVariation BEFREE After adjustment of age, sex, and APOE ε4 allele, rs3764650 remained to be an independent predictor of AD (p = 0.001). 24908168

2014

dbSNP: rs148078867
rs148078867
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.010 GeneticVariation BEFREE In total, we identified 78 potentially damaging rare variants (frequency <1%), including ABCA7 p.L400V in a family with Alzheimer's disease and LRRK2 p.R1514Q in 6 of 98 patients with Parkinson's disease (6.1%). 25174650

2015

dbSNP: rs3764650
rs3764650
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.900 GeneticVariation BEFREE An intronic low-frequency variant rs78117248 (minor allele frequency 3·8% in 58 patients with Alzheimer's disease and in controls 1·8% in 28 controls) showed strongest association with Alzheimer's disease (odds ratio 2·07, 95% CI 1·31-3·27; p=0·0016), and remained significant after conditioning for the GWAS top single nucleotide polymorphisms rs3764650, rs4147929, and rs3752246 (2·00, 1·22-3·26; p=0·006). 26141617

2015

dbSNP: rs4147929
rs4147929
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.860 GeneticVariation BEFREE An intronic low-frequency variant rs78117248 (minor allele frequency 3·8% in 58 patients with Alzheimer's disease and in controls 1·8% in 28 controls) showed strongest association with Alzheimer's disease (odds ratio 2·07, 95% CI 1·31-3·27; p=0·0016), and remained significant after conditioning for the GWAS top single nucleotide polymorphisms rs3764650, rs4147929, and rs3752246 (2·00, 1·22-3·26; p=0·006). 26141617

2015

dbSNP: rs3752246
rs3752246
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.850 GeneticVariation BEFREE An intronic low-frequency variant rs78117248 (minor allele frequency 3·8% in 58 patients with Alzheimer's disease and in controls 1·8% in 28 controls) showed strongest association with Alzheimer's disease (odds ratio 2·07, 95% CI 1·31-3·27; p=0·0016), and remained significant after conditioning for the GWAS top single nucleotide polymorphisms rs3764650, rs4147929, and rs3752246 (2·00, 1·22-3·26; p=0·006). 26141617

2015

dbSNP: rs78117248
rs78117248
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.010 GeneticVariation BEFREE An intronic low-frequency variant rs78117248 (minor allele frequency 3·8% in 58 patients with Alzheimer's disease and in controls 1·8% in 28 controls) showed strongest association with Alzheimer's disease (odds ratio 2·07, 95% CI 1·31-3·27; p=0·0016), and remained significant after conditioning for the GWAS top single nucleotide polymorphisms rs3764650, rs4147929, and rs3752246 (2·00, 1·22-3·26; p=0·006). 26141617

2015

dbSNP: rs3764650
rs3764650
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.900 GeneticVariation BEFREE A comprehensive literature search for studies involving the association between gene polymorphisms and AD was performed, and we finally selected 3 genes (4 polymorphisms) for the meta-analysis: ABCA7 (rs3764650), CD33 (rs3865444), and TOMM40 (rs157580, rs2075650). 26795201

2016