Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2230288
rs2230288
GBA
T 0.720 SusceptibilityMutation CLINVAR

dbSNP: rs1057518919
rs1057518919
G 0.700 CausalMutation CLINVAR

dbSNP: rs1345176461
rs1345176461
A 0.700 GeneticVariation CLINVAR

dbSNP: rs137852959
rs137852959
A 0.700 CausalMutation CLINVAR

dbSNP: rs148881970
rs148881970
G 0.700 CausalMutation CLINVAR

dbSNP: rs555145190
rs555145190
T 0.700 CausalMutation CLINVAR

dbSNP: rs63750301
rs63750301
T 0.700 GeneticVariation CLINVAR

dbSNP: rs63751011
rs63751011
T 0.700 CausalMutation CLINVAR

dbSNP: rs74315401
rs74315401
0.050 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

1995

dbSNP: rs63750900
rs63750900
0.010 GeneticVariation BEFREE R269H PS1 mutation was associated with early age of dementia onset, higher amounts of total A beta and A beta x-42, and increased neuronal cytoskeletal changes. 9189043

1997

dbSNP: rs63751037
rs63751037
0.010 GeneticVariation BEFREE Herein we report the case of a German EOAD patient with a family history of dementia and a missense mutation at codon 139 (M139V) of the PS-1 gene. 9728730

1998

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

1999

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: rs63750264
rs63750264
APP
0.010 GeneticVariation BEFREE A novel mutation in the APPgene (V717L) has been found in a family with a history of dementia, beginning in the mid to late 30s. 10867787

2000

dbSNP: rs63750231
rs63750231
0.030 GeneticVariation BEFREE Individuals designated as FAD met the criteria for dementia and were positive for the E280A presenilin 1 mutation. 10923058

2000

dbSNP: rs63751399
rs63751399
0.010 GeneticVariation BEFREE Dementia with prominent frontotemporal features associated with L113P presenilin 1 mutation. 11094121

2000

dbSNP: rs63751273
rs63751273
0.050 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: rs63750570
rs63750570
0.010 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: rs63750512
rs63750512
0.010 GeneticVariation BEFREE The present findings indicate that the G389R mutation in Tau can cause a dementia similar to that in Pick's disease. 11193177

2000

dbSNP: rs429358
rs429358
0.030 GeneticVariation BEFREE The apo E4 (Arg112-Cys) polymorphism has been associated with dementia and hypercholesterolemia. 11257253

2001

dbSNP: rs1217691063
rs1217691063
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: rs1805054
rs1805054
0.010 GeneticVariation BEFREE In order to identify gene variants related to the serotonergic neurotransmitter system that possibly represent a hereditary risk factor for sporadic Alzheimer's disease (AD), patients suffering from AD and non-demented psychiatric inpatients without symptoms of dementia were genotyped for polymorphisms of HTR6 (267C/T) and HTR2A (-1438G/A). 11725820

2001

dbSNP: rs7493
rs7493
0.010 GeneticVariation BEFREE (3-8) The importance of cardiovascular risk factors in the pathomechanism of Alzheimer's disease (AD) and vascular dementia (VD)(9-13) prompted us to examine the genetic effect of PON2 gene codon 311 (Cys-->Ser; PON2*S) polymorphism and the relationship between the PON2*S allele and the other dementia risk factor, the apoE polymorphism in these dementias. 11803456

2002

dbSNP: rs63750959
rs63750959
0.010 GeneticVariation BEFREE Thus, we consider that the Arg5His mutation is an authentic tau gene abnormality responsible for the patient's tau pathology and late-onset dementia. 11921059

2002

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