Source: ALL
Variant Gene Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057518919
rs1057518919
0.700 CausalMutation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015

dbSNP: rs63750301
rs63750301
0.700 GeneticVariation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015

dbSNP: rs63751011
rs63751011
0.700 CausalMutation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015

dbSNP: rs5882
rs5882
0.030 GeneticVariation BEFREE Consecutive outpatients with late-onset AD were assessed for age at dementia onset and Neuropsychiatric Inventory scores according to Clinical Dementia Rating scores, apolipoprotein E gene (APOE) haplotypes, angiotensin-converting enzyme gene (ACE) variants rs1800764 and rs4291, low-density lipoprotein cholesterol receptor gene (LDLR) variants rs11669576 and rs5930, cholesteryl ester transfer protein gene (CETP) variants I422V and TaqIB, and liver X receptor beta gene (NR1H2) polymorphism rs2695121. 28099631

2017

dbSNP: rs63750756
rs63750756
0.030 GeneticVariation BEFREE However, exome sequencing identified a missense mutation, N279K, in exon 10 of MAPT gene, verifying that the early parkinsonian symptoms in this family are caused by the genetic mutation for hereditary frontotemporal lobar dementia. 26295349

2016

dbSNP: rs6265
rs6265
0.030 GeneticVariation BEFREE Effect of BDNF Val66Met polymorphism on regional white matter hyperintensities and cognitive function in elderly males without dementia. 24275008

2014

dbSNP: rs63750424
rs63750424
0.030 GeneticVariation BEFREE Parkinsonism and distinct dementia patterns in a family with the MAPT R406W mutation. 23727082

2014

dbSNP: rs759834365
rs759834365
0.030 GeneticVariation BEFREE Effect of BDNF Val66Met polymorphism on regional white matter hyperintensities and cognitive function in elderly males without dementia. 24275008

2014

dbSNP: rs5882
rs5882
0.030 GeneticVariation BEFREE Using data from two ongoing epidemiologic clinical-pathologic cohort studies of aging and dementia in the United States, the Religious Order Study and the Memory and Aging Project, we evaluated the association of the CETP I405V polymorphism (rs5882) with cognitive decline and risk of incident AD in more than 1300 participants of European ancestry. 22122979

2012

dbSNP: rs6265
rs6265
0.030 GeneticVariation BEFREE Among 200 outpatients with dementia and MCI, 146 outpatients with mild AD or A-MCI were recruited and divided into two genotypic groups, valine homozygosity (Val/Val) and methionine (Met) carriers, based on the representative BDNF functional polymorphism Val66Met. 22699449

2012

dbSNP: rs759834365
rs759834365
0.030 GeneticVariation BEFREE Among 200 outpatients with dementia and MCI, 146 outpatients with mild AD or A-MCI were recruited and divided into two genotypic groups, valine homozygosity (Val/Val) and methionine (Met) carriers, based on the representative BDNF functional polymorphism Val66Met. 22699449

2012

dbSNP: rs6265
rs6265
0.030 GeneticVariation BEFREE Role of BDNF val66met polymorphism on the association between physical activity and incident dementia. 20172629

2011

dbSNP: rs759834365
rs759834365
0.030 GeneticVariation BEFREE Role of BDNF val66met polymorphism on the association between physical activity and incident dementia. 20172629

2011

dbSNP: rs5882
rs5882
0.030 GeneticVariation BEFREE To test the hypothesis that a single-nucleotide polymorphism (SNP) at CETP codon 405 (isoleucine to valine V405; SNP rs5882) is associated with a lower rate of memory decline and lower risk of incident dementia, including Alzheimer disease (AD). 20068209

2010

dbSNP: rs74315401
rs74315401
0.030 GeneticVariation BEFREE We hereby report a large Chinese family with P102L mutation of PRNP whose clinical manifestations at onset were intriguingly heterogeneous, either rapidly progressive dementia with scanty other neurological features or slowly progressive ataxia followed by cognitive impairment. 19696976

2010

dbSNP: rs63750424
rs63750424
0.030 GeneticVariation BEFREE We report clinical, molecular, neuroimaging and neuropathological features of a Danish family with autosomal dominant inherited dementia, a clinical phenotype resembling Alzheimer's disease and a pathogenic mutation (R406W) in the microtubule associated protein tau (MAPT) gene. 18284428

2008

dbSNP: rs63750424
rs63750424
0.030 GeneticVariation BEFREE Dementia in one or more first-degree family members was found in 43% of patients and mutation analysis of the tau gene showed mutations in 34 patients (19 P301L, five L315R, four G272V, four R406W, one Delta K280 and one S320F), all with a positive family history for dementia (14% of the total population, 32% of patients with a positive family history). 12876142

2003

dbSNP: rs63751273
rs63751273
0.030 GeneticVariation BEFREE Dementia in one or more first-degree family members was found in 43% of patients and mutation analysis of the tau gene showed mutations in 34 patients (19 P301L, five L315R, four G272V, four R406W, one Delta K280 and one S320F), all with a positive family history for dementia (14% of the total population, 32% of patients with a positive family history). 12876142

2003

dbSNP: rs63750756
rs63750756
0.030 GeneticVariation BEFREE An N279K missense mutation in exon 10 of the tau gene reported in an American family with pallidopontonigral degeneration (PPND family) was recently found in members of a French kindred with dementia and supranuclear palsy. 12056930

2002

dbSNP: rs74315401
rs74315401
0.030 GeneticVariation BEFREE Hyperphosphorylated tau deposition parallels prion protein burden in a case of Gerstmann-Sträussler-Scheinker syndrome P102L mutation complicated with dementia. 12200619

2002

dbSNP: rs63751273
rs63751273
0.030 GeneticVariation BEFREE Because the mutations (V337M, P301L) are associated with genetic tauopathies, these results suggest that a factor in disease etiology of genetic tauopathies and other dementias with altered tau is a greater abundance of tau in the cytoplasm due to decreased binding to microtubules. 11170176

2001

dbSNP: rs63750756
rs63750756
0.030 GeneticVariation BEFREE A mutation at codon 279 (N279K) in exon 10 of the Tau gene causes a tauopathy with dementia and supranuclear palsy. 10412802

1999

dbSNP: rs63751273
rs63751273
0.030 GeneticVariation BEFREE Tau pathology in a family with dementia and a P301L mutation in tau. 10218629

1999

dbSNP: rs74315401
rs74315401
0.030 GeneticVariation BEFREE In contrast, a recent case with proven P102L mutation of the PRNP gene had rapidly developing dementia and severe cortical damage indistinguishable from the clinicopathological phenotype of Creutzfeldt-Jakob disease (CJD). 8520719

1996

dbSNP: rs63750215
rs63750215
0.020 GeneticVariation BEFREE The p.N141I mutation was identified in all affected subjects and was associated with prominent early onset, rapidly progressive dementia, neurologic, and behavioral symptoms. 26166204

2016