rs2230808, ABCA1

N. diseases: 6
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
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
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
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
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
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
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
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
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
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