Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
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0.830 | GeneticVariation | BEFREE | We report the following findings: (1) nearly 30% of non-coding AD SNPs are located in enhancers; (2) eQTL genes affected by non-coding AD SNPs within enhancers are associated with amyloid beta clearance, synaptic transmission, and immune responses; (3) 95% of the AD SNPs located in enhancers co-localize with their eQTL genes in topologically associating domains suggesting that regulation may occur through chromatin higher-order structures; (4) rs1476679 spatially contacts the promoters of eQTL genes via CTCF-CTCF interactions; (5) the effect of other AD SNPs such as rs7364180 is likely to be, at least in part, indirect through regulation of transcription factors that in turn regulate AD associated genes. | 31500627 | 2019 |
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C | 0.830 | GeneticVariation | GWASCAT | Genome-wide meta-analysis identifies new loci and functional pathways influencing Alzheimer's disease risk. | 30617256 | 2019 |
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0.830 | GeneticVariation | BEFREE | We show here that a common missense variant (G78R, rs1859788) of PILRA is the likely causal allele for the confirmed Alzheimer's disease risk locus at 7q21 (rs1476679). | 30388101 | 2018 |
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0.830 | GeneticVariation | BEFREE | Brain regions most significantly associated with AD risk variants were the left postcentral gyrus with ABCA7 (rs4147929, p = 4.45 × 10<sup>-6</sup>), right superior frontal gyrus by ZCWPW1 (rs1476679, p = 5.12 × 10<sup>-6</sup>), and right postcentral gyrus by APOE (p = 6.91 × 10<sup>-6</sup>). | 27718423 | 2016 |
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T | 0.830 | GeneticVariation | GWASCAT | Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease. | 24162737 | 2013 |
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T | 0.830 | GeneticVariation | GWASDB | Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease. | 24162737 | 2013 |