BLOC1S3, biogenesis of lysosomal organelles complex 1 subunit 3, 388552
N. diseases: 32; N. variants: 14
Source: ALL
| Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
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0.700 | GeneticVariation | GWASCAT | Leveraging Polygenic Functional Enrichment to Improve GWAS Power. | 30595370 | 2019 | |||||||
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C | 0.700 | GeneticVariation | GWASCAT | Genome-wide meta-analysis identifies new loci and functional pathways influencing Alzheimer's disease risk. | 30617256 | 2019 | ||||||
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0.700 | GeneticVariation | GWASCAT | GWAS on family history of Alzheimer's disease. | 29777097 | 2018 | |||||||
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0.700 | GeneticVariation | GWASCAT | GWAS on family history of Alzheimer's disease. | 29777097 | 2018 | |||||||
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0.700 | GeneticVariation | GWASCAT | GWAS on family history of Alzheimer's disease. | 29777097 | 2018 | |||||||
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0.700 | GeneticVariation | GWASCAT | GWAS on family history of Alzheimer's disease. | 29777097 | 2018 | |||||||
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0.700 | GeneticVariation | GWASCAT | GWAS on family history of Alzheimer's disease. | 29777097 | 2018 | |||||||
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0.700 | GeneticVariation | GWASCAT | GWAS on family history of Alzheimer's disease. | 29777097 | 2018 | |||||||
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C | 0.700 | GeneticVariation | GWASCAT | The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. | 27863252 | 2016 | ||||||
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C | 0.700 | GeneticVariation | GWASCAT | The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. | 27863252 | 2016 | ||||||
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C | 0.700 | GeneticVariation | GWASCAT | The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. | 27863252 | 2016 | ||||||
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0.700 | GeneticVariation | GWASDB | Genome-wide association study in multiple human prion diseases suggests genetic risk factors additional to PRNP. | 22210626 | 2012 | |||||||
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0.700 | GeneticVariation | GWASDB | Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease. | 21460841 | 2011 | |||||||
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T | 0.700 | GeneticVariation | GWASCAT | Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae. | 19197348 | 2009 | ||||||
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T | 0.700 | GeneticVariation | GWASDB | Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae. | 19197348 | 2009 | ||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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G | 0.700 | CausalMutation | CLINVAR | |||||||||
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G | 0.700 | CausalMutation | CLINVAR | |||||||||
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0.030 | GeneticVariation | BEFREE | However the rs597668 C allele played a protective role in AD with OR=0.93 and P=0.023 in East Asian population. | 28423615 | 2017 | |||||||
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0.030 | GeneticVariation | BEFREE | To our knowledge, this is the first study that assesses the association between rs597668 polymorphism and AD by meta-analysis. | 23663385 | 2013 | |||||||
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0.030 | GeneticVariation | BEFREE | In a meta-analysis, rs597668 (EXOC3L2) was also associated with the AD risk, albeit to a lesser extent (OR = 1.19, 95% CI [1.06-1.32], p = 2.0 × 10(-3)). | 21220176 | 2011 | |||||||
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0.020 | GeneticVariation | BEFREE | This study suggests that the rs597668 polymorphism near EXOC3L2 may not play a major role in the susceptibility to LOAD in the Northern Han Chinese population. | 22381399 | 2012 | |||||||
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0.020 | GeneticVariation | BEFREE | The variant near EXOC3L2 (rs597668) showed only suggestive association with LOAD (p = 0.09) after correcting for the presence of the APOE ε4 allele. | 21321396 | 2011 |