Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2230806
rs2230806
0.090 GeneticVariation BEFREE After correcting p values for multiple testing, only the effects of the rs2230805 and rs2230806 polymorphisms remained significant in the recessive model suggesting a modest protective effect of their minor alleles in AD, which should be interpreted with considerable caution, until further studies elucidate their role in AD pathology. 29133174

2018

dbSNP: rs2230806
rs2230806
0.090 GeneticVariation BEFREE CONCLUSIONS ABCA1 R219K R allele was the risk factor inducing abnormal serum levels of ApoA2, LDL, and TG in AD patients, and abnormal levels of serum ABCA1, HDL, IL-1b, IL-6, and TNF-α in PD patients, while ABCA1 R219K K allele was the risk factor inducing lower ABCA1 in AD patients. 28943632

2017

dbSNP: rs2230806
rs2230806
0.090 GeneticVariation BEFREE The relationship between ABCA1 common variations (R219 K rs2230806, I883 M rs4149313 and R1587 K rs2230808) and AD has been reported in various ethnic groups; however, these studies have yielded contradictory results. 23111454

2013

dbSNP: rs2230806
rs2230806
0.090 GeneticVariation BEFREE The results indicated that the RK genotype or K allele (RK + KK) of R219K may relate to the development of AD in the east of China. 22377775

2012

dbSNP: rs2230806
rs2230806
0.090 GeneticVariation BEFREE In summary, there was no significant association detected between ABCA1 R219K, I883M and R1587K polymorphisms and risk for AD. 22982414

2012

dbSNP: rs2230806
rs2230806
0.090 GeneticVariation BEFREE We show an apparent weak association of rs2230806 (p-value=0.01) with the disease in a sibpair series of Alzheimer's disease that had shown previously evidence for linkage to the chromosome 9 locus where ABCA1 maps. 17324514

2007

dbSNP: rs2230806
rs2230806
0.090 GeneticVariation BEFREE To evaluate the relationship between ABCA1 genetic variants and Alzheimer's disease (AD), independently or in concert with the APOE epsilon4 allele, we examined three ABCA1 polymorphisms located in the coding region (R219K, I883M, and R1587K) and two ABCA1 polymorphisms in the promoter region (C-14T and C-477T) in a group of 372 Spanish AD patients and 440 controls. 17510946

2007

dbSNP: rs2230806
rs2230806
0.090 GeneticVariation BEFREE The purpose of this case-control study was to determine whether single nucleotide polymorphisms (SNPs) A-->G in the intron 2 of CYP46 gene and G-->A (R219K) in the exon 7 of ABCA1 gene are associated with sporadic AD in the Chinese Han population. 17335784

2007

dbSNP: rs2230806
rs2230806
0.090 GeneticVariation BEFREE Since altered cholesterol metabolism is also involved in Alzheimer's disease (AD), the effects of two ABCA1 polymorphisms (G-395C promoter polymorphism (rs 2246293) and exonic R219K) on the risk of AD in 241 AD patients and 294 non-demented controls, and on CSF cholesterol and 24S-hydroxycholesterol in 74 AD patients and 42 non-demented controls were investigated. 16596262

2006

dbSNP: rs2230808
rs2230808
0.050 GeneticVariation BEFREE The relationship between ABCA1 common variations (R219 K rs2230806, I883 M rs4149313 and R1587 K rs2230808) and AD has been reported in various ethnic groups; however, these studies have yielded contradictory results. 23111454

2013

dbSNP: rs2230808
rs2230808
0.050 GeneticVariation BEFREE In summary, there was no significant association detected between ABCA1 R219K, I883M and R1587K polymorphisms and risk for AD. 22982414

2012

dbSNP: rs2230808
rs2230808
0.050 GeneticVariation BEFREE Although coding SNP (rs2230808) was confirmed to have a significant association with AD, prediction of the effects of an amino acid substitution SNP rs2230808 (R1587K) on the three-dimensional structure and function of the ABCA1 protein using PolyPhen program revealed that it is unlikely to be functionally significant. 17510949

2007

dbSNP: rs2230808
rs2230808
0.050 GeneticVariation BEFREE To evaluate the relationship between ABCA1 genetic variants and Alzheimer's disease (AD), independently or in concert with the APOE epsilon4 allele, we examined three ABCA1 polymorphisms located in the coding region (R219K, I883M, and R1587K) and two ABCA1 polymorphisms in the promoter region (C-14T and C-477T) in a group of 372 Spanish AD patients and 440 controls. 17510946

2007

dbSNP: rs2230808
rs2230808
0.050 GeneticVariation BEFREE Rs2234884 and another non-synonymous SNP (R1587K) in ABCA1 (rs2234886) failed to show significant association with the risk for AD. 12600718

2003

dbSNP: rs2066714
rs2066714
0.020 GeneticVariation BEFREE In summary, there was no significant association detected between ABCA1 R219K, I883M and R1587K polymorphisms and risk for AD. 22982414

2012

dbSNP: rs2066714
rs2066714
0.020 GeneticVariation BEFREE To evaluate the relationship between ABCA1 genetic variants and Alzheimer's disease (AD), independently or in concert with the APOE epsilon4 allele, we examined three ABCA1 polymorphisms located in the coding region (R219K, I883M, and R1587K) and two ABCA1 polymorphisms in the promoter region (C-14T and C-477T) in a group of 372 Spanish AD patients and 440 controls. 17510946

2007

dbSNP: rs2230805
rs2230805
0.010 GeneticVariation BEFREE After correcting p values for multiple testing, only the effects of the rs2230805 and rs2230806 polymorphisms remained significant in the recessive model suggesting a modest protective effect of their minor alleles in AD, which should be interpreted with considerable caution, until further studies elucidate their role in AD pathology. 29133174

2018

dbSNP: rs1800977
rs1800977
0.010 GeneticVariation BEFREE In addition, ABCA1 rs2066718 and rs1800977 polymorphisms might not contribute to AD susceptibility in general population, but they should play a role on AD development when interacted with ApoE-ε4. 27215623

2016

dbSNP: rs2066718
rs2066718
0.010 GeneticVariation BEFREE In addition, ABCA1 rs2066718 and rs1800977 polymorphisms might not contribute to AD susceptibility in general population, but they should play a role on AD development when interacted with ApoE-ε4. 27215623

2016

dbSNP: rs2422493
rs2422493
0.010 GeneticVariation BEFREE In summary, our meta-analysis results showed that ABCA1 rs2422493 polymorphism was a risk factor for AD while PTGS2 rs20417 variant showed a protective effect on AD risk. 27215623

2016

dbSNP: rs146292819
rs146292819
0.010 GeneticVariation BEFREE Multifactorially adjusted hazard ratios for N1800H AC versus AA were 4.13 (95% confidence interval, 1.32-12.9) for AD, 2.46 (1.10-5.50) for cerebrovascular disease, and 8.28 (2.03-33.7) for the hemorrhagic stroke subtype. 26079414

2015

dbSNP: rs4149313
rs4149313
0.010 GeneticVariation BEFREE The relationship between ABCA1 common variations (R219 K rs2230806, I883 M rs4149313 and R1587 K rs2230808) and AD has been reported in various ethnic groups; however, these studies have yielded contradictory results. 23111454

2013

dbSNP: rs2066715
rs2066715
0.010 GeneticVariation BEFREE We studied the role of R219K and V825I polymorphisms of ABCA1 in modulating the risk of AD in 321 AD patients and 349 comparisons of Chinese Han. 22377775

2012

dbSNP: rs2740483
rs2740483
0.010 GeneticVariation BEFREE In the present study, we examined the role of two ABCA1 polymorphisms, R219K (rs2230806) and G-17C (rs2740483) in modifying the risk of late-onset AD (LOAD) in a large American white cohort of 992 AD cases and 699 controls. 16725228

2007

dbSNP: rs2234886
rs2234886
0.010 GeneticVariation BEFREE Rs2234884 and another non-synonymous SNP (R1587K) in ABCA1 (rs2234886) failed to show significant association with the risk for AD. 12600718

2003