rs4420638, APOC1

N. diseases: 43
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Age related macular degeneration
CUI: C0242383
Disease: Age related macular degeneration
0.810 GeneticVariation GWASDB Seven new loci associated with age-related macular degeneration. 23455636 2013
Age related macular degeneration
CUI: C0242383
Disease: Age related macular degeneration
0.810 GeneticVariation GWASCAT Seven new loci associated with age-related macular degeneration. 23455636 2013
Age related macular degeneration
CUI: C0242383
Disease: Age related macular degeneration
0.810 GeneticVariation BEFREE Nineteen single nucleotide polymorphisms (SNPs) previously associated with AMD, including rs10490924 (<i>ARMS2/HTRA1</i>), rs10737680 (<i>CFH</i>), rs13278062 (<i>TNFRSF10A</i>), rs1864163 (<i>CETP</i>), rs2230199 (<i>C3</i>), rs3130783 (<i>IER3/DDR1</i>), rs334353 (<i>TGFBR1</i>), rs3812111 (<i>COL10A1</i>), rs429608 (<i>C2/CFB</i>), rs4420638 (<i>APOE</i>), rs4698775 (<i>CFI</i>), rs5749482 (<i>TIMP3</i>), rs6795735 (<i>ADAMTS9</i>), rs8017304 (<i>RAD51B</i>), rs8135665 (<i>SLC16A8</i>), rs920915 (<i>LIPC</i>), rs943080 (<i>VEGFA</i>), rs9542236 (<i>B3GALTL</i>) and rs13081855 (<i>COL8A1/FILIP1L</i>), were genotyped in this cohort. 31819893 2019
Alzheimer Disease, Late Onset
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
0.010 GeneticVariation BEFREE SNP rs4420638 on chromosome 19, located 14 kilobase pairs distal to the APOE epsilon variant, significantly distinguished between AD cases and controls (Bonferroni corrected p value = 5.30 x 10(-34), OR = 4.01) and was far more strongly associated with the risk of AD than any other SNP of the 502,627 tested. 17474819 2007
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.820 GeneticVariation GWASDB Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease. 21460841 2011
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.820 GeneticVariation GWASCAT Genome-wide association analysis of age-at-onset in Alzheimer's disease. 22005931 2012
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.820 GeneticVariation GWASCAT A high-density whole-genome association study reveals that APOE is the major susceptibility gene for sporadic late-onset Alzheimer's disease. 17474819 2007
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.820 GeneticVariation BEFREE The SNPs rs2075650 and rs4420638 were linked to the most replications within a single reclassified phenotype or very similar reclassified phenotypes; both were associated with Alzheimer's disease (AD). 29942042 2019
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.820 GeneticVariation GWASDB Sorl1 as an Alzheimer's disease predisposition gene? 17975299 2008
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.820 GeneticVariation GWASDB Candidate single-nucleotide polymorphisms from a genomewide association study of Alzheimer disease. 17998437 2008
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.820 GeneticVariation GWASCAT Sorl1 as an Alzheimer's disease predisposition gene? 17975299 2008
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.820 GeneticVariation BEFREE The minor allele of rs4420638 (G) and the minor allele of rs157582 (T) showed associations with lower Mini-mental State Examination score, higher Alzheimer Disease Assessment Scale-cognitive subscale 11 score and smaller entorhinal volume using both baseline and longitudinal measurements, as well as with accelerated cognitive decline. 31760383 2019
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.820 GeneticVariation GWASDB A high-density whole-genome association study reveals that APOE is the major susceptibility gene for sporadic late-onset Alzheimer's disease. 17474819 2007
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.820 GeneticVariation GWASCAT Genome-wide analysis of genetic predisposition to Alzheimer's disease and related sex disparities. 30636644 2019
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.820 GeneticVariation GWASDB Genome-wide association study identifies variants at CLU and CR1 associated with Alzheimer's disease. 19734903 2009
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.820 GeneticVariation GWASDB Genome-wide association study of Alzheimer's disease. 22832961 2012
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.820 GeneticVariation GWASCAT Genome-wide association study of Alzheimer's disease. 22832961 2012
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.820 GeneticVariation GWASCAT Candidate single-nucleotide polymorphisms from a genomewide association study of Alzheimer disease. 17998437 2008
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.820 GeneticVariation GWASCAT Family-based association analyses of imputed genotypes reveal genome-wide significant association of Alzheimer's disease with OSBPL6, PTPRG, and PDCL3. 26830138 2016
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.820 GeneticVariation GWASDB Genome-wide association analysis of age-at-onset in Alzheimer's disease. 22005931 2012
Atrial Fibrillation
CUI: C0004238
Disease: Atrial Fibrillation
0.700 GeneticVariation GWASCAT Pleiotropic Meta-Analyses of Longitudinal Studies Discover Novel Genetic Variants Associated with Age-Related Diseases. 27790247 2016
Body mass index
CUI: C1305855
Disease: Body mass index
0.700 GeneticVariation GWASCAT The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study. 26426971 2015
Body mass index
CUI: C1305855
Disease: Body mass index
0.700 GeneticVariation GWASCAT Pleiotropic Meta-Analyses of Longitudinal Studies Discover Novel Genetic Variants Associated with Age-Related Diseases. 27790247 2016
Body mass index procedure
CUI: C0005893
Disease: Body mass index procedure
0.700 GeneticVariation GWASCAT The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study. 26426971 2015
C-reactive protein measurement
CUI: C0201657
Disease: C-reactive protein measurement
0.800 GeneticVariation GWASCAT Meta-analysis of genome-wide association studies in >80 000 subjects identifies multiple loci for C-reactive protein levels. 21300955 2011