Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1010159
rs1010159
SORL1
0.010 GeneticVariation BEFREE In the present study we investigated the association of SORL1 gene variants (rs2070045 (SNP19), SORL1-18ex26 (SNP21), rs3824968 (SNP23), rs1010159 (SNP25)) with AD risk by using Cox proportional hazard model and Kaplan-Meier survival analysis in 349 AD patients and 483 controls, recruited from a multicenter study of the German Competence Network Dementias. 19368828

2009
dbSNP: rs1043202
rs1043202
SMUG1
0.010 GeneticVariation BEFREE We herein report the case of a German EOAD patient with a family history of dementia and a missense mutation at codon 141 (N141I) </span>of the PSEN2 gene. 19073399

2008
dbSNP: rs1044396
rs1044396
CHRNA4
0.010 GeneticVariation BEFREE To determine the link between CHRNA4 variation and cognitive function/depressed mood, this study conducted a genotype-phenotype correlation analysis between the common CHRNA4:rs1044396 variant and several baseline parameters of cognition and depressed mood in 192 elderly male subjects without major psychiatric disorders or dementia. 22008229

2012
dbSNP: rs104893875
rs104893875
SNCA
0.010 GeneticVariation BEFREE Mutations in the gene for α-syn, including the E46K missense mutation, are sufficient to cause Parkinson disease as well as other synucleinopathies like dementia with LBs. 21846727

2011
dbSNP: rs104893877
rs104893877
SNCA
0.030 GeneticVariation BEFREE Therefore, the unraveled tau-mediated signaling cascade may contribute to the pathogenesis of dementia in A53T α-synuclein-linked familial PD cases, as well as some subgroups of PD cases with extensive tau pathology.<b>SIGNIFICANCE STATEMENT</b> Here, we report mutation-specific postsynaptic deficits that are caused by A53T mutant α-synuclein, which is linked to familial Parkinson's disease (PD). 30249789

2018
dbSNP: rs104893877
rs104893877
SNCA
0.030 GeneticVariation BEFREE Our results confirm that the p. A53T SNCA mutation is relatively common in Greek patients with PD or PD plus dementia, particularly in cases with early onset and/or autosomal dominant family history. 29233723

2018
dbSNP: rs104893877
rs104893877
SNCA
0.030 GeneticVariation BEFREE Moreover, cerebrospinal fluid (CSF) levels of tau, p-tau and amyloid Aβ42 were measured in these patients and in an additional cohort of 5 symptomatic and 2 asymptomatic p.A53T carriers without an initial manifestation of dementia. 28012952

2017
dbSNP: rs104893941
rs104893941
SQSTM1 ; MRNIP
0.010 GeneticVariation BEFREE Amongst the 6 family members analyzed, the p.P392L SQSTM1 mutation segregated as expected with PDB, whereas the C9orf72 expansion segregated with frontal cognitive impairment or dementia in all but one carrier. 26839080

2016
dbSNP: rs104894002
rs104894002
TREM2 ; LOC105375056
0.010 GeneticVariation BEFREE Mutations of Q33X, Y38C and T66M cause Nasu-Hakola disease (NHD) which is characterized by early onset of dementia and bone cysts. 25615530

2015
dbSNP: rs1057518919
rs1057518919
PSEN1
G 0.700 CausalMutation CLINVAR

dbSNP: rs11136000
rs11136000
CLU
0.010 GeneticVariation BEFREE The rs11136000 major C allele-previously linked with reduced CLU expression and with increased risk for dementia-predicted faster expansion, independently of dementia status or ApoE genotype. 24806679

2014
dbSNP: rs112451138
rs112451138
PSEN1
0.010 GeneticVariation BEFREE Here we report three novel PSEN1 mutations: Ile238_Lys239insIle, Ala246Pro and Ala164Val from patients who manifested in their twenties, forties and seventies, respectively, with variant clinical presentations of dementia. 26350633

2015
dbSNP: rs11669576
rs11669576
LDLR ; MIR6886
0.010 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: rs11931074
rs11931074
SNCA ; LOC105377329
0.010 GeneticVariation BEFREE PD patients carrying the protective GG genotype at SNCA rs11931074 may be at significantly higher risk of dementia than patients with other genotypes. 31102707

2019
dbSNP: rs1217691063
rs1217691063
MTHFR
0.040 GeneticVariation BEFREE Plasma total homocysteine levels and the C677T mutation in the methylenetetrahydrofolate reductase (MTHFR) gene: a study in an Italian population with dementia. 11589919

2001
dbSNP: rs1217691063
rs1217691063
MTHFR
0.040 GeneticVariation BEFREE Present study attempted to see the importance of ACE alu insertion/deletion and MTHFR C677T polymorphisms as genetic predisposers to dementia. 19716217

2009
dbSNP: rs1217691063
rs1217691063
MTHFR
0.040 GeneticVariation BEFREE Methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism is involved in folate and homocysteine metabolism, and has been associated with geriatric disorders, including dementia and late-life depression. 22668858

2012
dbSNP: rs1217691063
rs1217691063
MTHFR
0.040 GeneticVariation BEFREE The authors designed this longitudinal study to determine if high tHcy and the MTHFR C677T polymorphism increase the risk of incident dementia among older men. 21746742

2012
dbSNP: rs121909330
rs121909330
VCP
0.010 GeneticVariation BEFREE We identified the p.R155C missense mutation in the VCP gene segregating in an Italian family with three affected siblings, two of whom had a progressive myopathy associated with dementia, whereas one exhibited a progressive myopathy and preclinical signs of Paget's disease of bone. 17763460

2008
dbSNP: rs121909334
rs121909334
VCP
0.010 GeneticVariation BEFREE This stimulatory effect was lost when we used VCP mutants (R155H, R159G, and R191Q) known to cause Inclusion Body Myopathy with Paget's disease of bone and Fronto-temporal Dementia (IBMPFD) and/or familial Amyotrophic Lateral Sclerosis (ALS). 23349634

2013
dbSNP: rs121918100
rs121918100
TTR
0.020 GeneticVariation BEFREE Neuropathologic analysis of Tyr69His TTR variant meningovascular amyloidosis with dementia. 26156087

2015
dbSNP: rs121918100
rs121918100
TTR
0.020 GeneticVariation BEFREE The phenotype of the ATTR Tyr69His mutation was characterised by oculo-meningeal symptoms with seizures and a steadily progressing dementia, symptoms rarely found in ATTR amyloidosis, but similar to those previously described for this mutation, where all cases appear to originate from one Swedish family. 19922332

2009
dbSNP: rs1231783932
rs1231783932
APP
0.010 GeneticVariation BEFREE We herein report the case of a German EOAD patient with a family history of dementia and a missense mutation at codon 141 (N141I) </span>of the PSEN2 gene. 19073399

2008
dbSNP: rs1232898090
rs1232898090
PPARA
0.010 GeneticVariation BEFREE We found that Pro12Ala polymorphism in PPAR-gamma2 was not directly correlated with dementia among Chinese nonagenarians and centenarians. 20640553

2010
dbSNP: rs1233347077
rs1233347077
APOE
0.010 GeneticVariation BEFREE No association was found between the -174G>C polymorphism in the IL-6 gene and risk of dementia. 16635548

2006