Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28834970
rs28834970
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
C 0.830 GeneticVariation GWASCAT Genome-wide meta-analysis identifies new loci and functional pathways influencing Alzheimer's disease risk. 30617256

2019

dbSNP: rs28834970
rs28834970
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.830 GeneticVariation GWASCAT Genome-wide association analysis of dementia and its clinical endophenotypes reveal novel loci associated with Alzheimer's disease and three causality networks: The GR@ACE project. 31473137

2019

dbSNP: rs28834970
rs28834970
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.830 GeneticVariation BEFREE The genotypes rs6733839 in the <i>BIN1</i> gene and rs28834970 in the <i>PTK2B</i> gene approached significance in the PENN cohort and were significantly associated with reduced AD risk in the NACC cohort. 30128317

2018

dbSNP: rs28834970
rs28834970
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.830 GeneticVariation GWASCAT GWAS on family history of Alzheimer's disease. 29777097

2018

dbSNP: rs28834970
rs28834970
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.830 GeneticVariation BEFREE A number of genetic variants have previously been identified and associated with the risk of Alzheimer's disease (AD), including rs10838725 in CELF1, rs28834970 in PTK2B, rs17125944 in FERMT2, and rs10410544 in SIRT2 based on genome-wide association studies. 30144538

2018

dbSNP: rs28834970
rs28834970
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.830 GeneticVariation BEFREE Our results showed no significant differences in the frequency of rs28834970 alleles and genotypes between AD cases and controls. 27080426

2016

dbSNP: rs28834970
rs28834970
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
C 0.830 GeneticVariation GWASCAT Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease. 24162737

2013

dbSNP: rs28834970
rs28834970
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
C 0.830 GeneticVariation GWASDB Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease. 24162737

2013

dbSNP: rs10109834
rs10109834
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.700 GeneticVariation GWASCAT GWAS on family history of Alzheimer's disease. 29777097

2018

dbSNP: rs117176448
rs117176448
CUI: C1305855
Disease: Body mass index
Body mass index
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370

2019

dbSNP: rs117176448
rs117176448
CUI: C1305855
Disease: Body mass index
Body mass index
C 0.700 GeneticVariation GWASCAT Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry. 30239722

2019

dbSNP: rs11776693
rs11776693
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370

2019

dbSNP: rs17057051
rs17057051
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases
A 0.700 GeneticVariation GWASCAT Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations. 26192919

2015

dbSNP: rs2322599
rs2322599
CUI: C0039263
Disease: Takayasu Arteritis
Takayasu Arteritis
G 0.700 GeneticVariation GWASCAT Genetic determinants and an epistasis of LILRA3 and HLA-B*52 in Takayasu arteritis. 30498034

2018

dbSNP: rs6987305
rs6987305
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370

2019

dbSNP: rs28834970
rs28834970
CUI: C1842937
Disease: AURAL ATRESIA, CONGENITAL
AURAL ATRESIA, CONGENITAL
0.010 GeneticVariation BEFREE We observed significant associations of CAA pathology with APOEɛ4 and PTK2B rs28834970. 31256143

2019

dbSNP: rs28834970
rs28834970
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset
0.010 GeneticVariation BEFREE Finally, we found rs6656401-rs3865444 (CR1-CD33) pairs were significantly associated with decreasing LOAD risk, while rs28834970-rs6656401 (PTK2B-CR1), and rs28834970-rs6656401 (PTK2B-CD33) were associated with increasing LOAD risk. 26680604

2015

dbSNP: rs41316468
rs41316468
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.010 GeneticVariation BEFREE Several of these SNPs, such as rs6141803 of COMMD7 and rs41316468 in PKT2B, have independently confirmed associations with cardiovascular diseases (CVDs) according to other unrelated studies, suggesting that our pipeline is robust in identifying key genetic variants. 28441463

2017

dbSNP: rs751019
rs751019
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.010 GeneticVariation BEFREE Another polymorphism, 53484A>C (K838T), in linkage disequilibrium with -22A>G showed a marginal association with hypertension in men (AA vs. AC+CC: odds ratio=1.25; 95% confidence interval: 0.99-1.57; P=0.059). 18075463

2007