Source: BEFREE ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1800557
rs1800557
APP
0.010 GeneticVariation BEFREE We recently reported an alanine to valine mutation in codon 713 in a single case of chronic familial schizophrenia with cognitive deficits. 8049900

1994
dbSNP: rs1217691063
rs1217691063
MTHFR
0.100 GeneticVariation BEFREE To elucidate the specific role of the TT genotype of MTHFR in the development of cerebral infarction with and without cognitive impairment, we determined the prevalence of hyperhomocyst(e)inemia and the C677T genotypes of MTHFR in 143 patients with vascular dementia, 122 patients with cerebral infarction, and 217 healthy subjects matched for age and sex. 10938012

2000
dbSNP: rs104893878
rs104893878
SNCA ; SNCA-AS1
0.020 GeneticVariation BEFREE Neuropsychological testing in four mutation carriers provided evidence for cognitive impairment as a frequent and early symptom of the A30P mutation; this is also supported by regional cerebral energy metabolism alterations in the clinically presymptomatic subject. 11376188

2001
dbSNP: rs17125721
rs17125721
PSEN1
0.020 GeneticVariation BEFREE Follow-up studies should clarify whether the Glu318Gly mutation increases the risk of cognitive decline in later life. 11755019

2002
dbSNP: rs80358259
rs80358259
NPC1
0.010 GeneticVariation BEFREE We report on a patient with adult-onset Niemann-Pick type C (NPC) disease, carrying the mutations P1007 and I1061T in the NPC1 gene, presenting with marked psychiatric changes followed by dystonia and cognitive impairment. 14639697

2003
dbSNP: rs1805054
rs1805054
HTR6
0.010 GeneticVariation BEFREE Compared to patients with the T/C 267 genotype, those with T/T 267 showed less severe positive symptoms (p=0.006) and general psychopathology (including anxiety, depression, and cognitive dysfunctions) (p=0.005). 14741325

2004
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
0.010 GeneticVariation BEFREE Trends towards accelerated cognitive dysfunction in H63D homozygotes warrant further study. 15013567

2004
dbSNP: rs371425292
rs371425292
APP
0.020 GeneticVariation BEFREE Both synaptic and cognitive deficits are reproduced in mice double transgenic for amyloid precursor protein (AA substitution K670N,M671L) and presenilin-1 (AA substitution M146V). 15578094

2004
dbSNP: rs572842823
rs572842823
APP
0.020 GeneticVariation BEFREE Both synaptic and cognitive deficits are reproduced in mice double transgenic for amyloid precursor protein (AA substitution K670N,M671L) and presenilin-1 (AA substitution M146V). 15578094

2004
dbSNP: rs1223904774
rs1223904774
APP
0.010 GeneticVariation BEFREE Both synaptic and cognitive deficits are reproduced in mice double transgenic for amyloid precursor protein (AA substitution K670N,M671L) and presenilin-1 (AA substitution M146V). 15578094

2004
dbSNP: rs63750306
rs63750306
PSEN1
0.010 GeneticVariation BEFREE Both synaptic and cognitive deficits are reproduced in mice double transgenic for amyloid precursor protein (AA substitution K670N,M671L) and presenilin-1 (AA substitution M146V). 15578094

2004
dbSNP: rs121912433
rs121912433
SOD1
0.010 GeneticVariation BEFREE In 7 out of 39 FALS patients we found the following SOD1 gene mutations: i) a new G12R missense mutation in exon 1, found in a patient with a slowly progressive disease course; ii) the G41S mutation, in four unrelated patients with rapidly progressive course complicated with cognitive decline in two of them; iii) the L114F mutation, in a patient with a slowly progressive phenotype; iv) the D90A mutation, in a heterozygous patient with atypical phenotype. 15789135

2005
dbSNP: rs121912456
rs121912456
SOD1 ; LOC102724449
0.010 GeneticVariation BEFREE In 7 out of 39 FALS patients we found the following SOD1 gene mutations: i) a new G12R missense mutation in exon 1, found in a patient with a slowly progressive disease course; ii) the G41S mutation, in four unrelated patients with rapidly progressive course complicated with cognitive decline in two of them; iii) the L114F mutation, in a patient with a slowly progressive phenotype; iv) the D90A mutation, in a heterozygous patient with atypical phenotype. 15789135

2005
dbSNP: rs80265967
rs80265967
SOD1
0.010 GeneticVariation BEFREE In 7 out of 39 FALS patients we found the following SOD1 gene mutations: i) a new G12R missense mutation in exon 1, found in a patient with a slowly progressive disease course; ii) the G41S mutation, in four unrelated patients with rapidly progressive course complicated with cognitive decline in two of them; iii) the L114F mutation, in a patient with a slowly progressive phenotype; iv) the D90A mutation, in a heterozygous patient with atypical phenotype. 15789135

2005
dbSNP: rs63750756
rs63750756
MAPT
0.020 GeneticVariation BEFREE The behavioral phenotype of N279K mice mimics features of human FTDP-17 and provides a basic model for elucidating mechanisms underlying cognitive deficits in not only FTDP-17, but also diverse tauopathies. 16219306

2005
dbSNP: rs4680
rs4680
COMT ; MIR4761
0.050 GeneticVariation BEFREE The catechol O-methyltransferase Val158Met polymorphism and herpes simplex virus type 1 infection are risk factors for cognitive impairment in bipolar disorder: additive gene-environmental effects in a complex human psychiatric disorder. 16542182

2006
dbSNP: rs6265
rs6265
BDNF ; BDNF-AS
0.100 GeneticVariation BEFREE The Met66 allele of the functional Val66Met polymorphism in the brain-derived neurotrophic factor gene confers protection against neurocognitive dysfunction in systemic lupus erythematosus. 16606648

2006
dbSNP: rs759834365
rs759834365
BDNF ; BDNF-AS
0.100 GeneticVariation BEFREE The Met66 allele of the functional Val66Met polymorphism in the brain-derived neurotrophic factor gene confers protection against neurocognitive dysfunction in systemic lupus erythematosus. 16606648

2006
dbSNP: rs6265
rs6265
BDNF ; BDNF-AS
0.100 GeneticVariation BEFREE These findings suggest that the functional BDNF Val66Met variant is not a major determinant of rate of cognitive decline in AD. 16627933

2006
dbSNP: rs759834365
rs759834365
BDNF ; BDNF-AS
0.100 GeneticVariation BEFREE These findings suggest that the functional BDNF Val66Met variant is not a major determinant of rate of cognitive decline in AD. 16627933

2006
dbSNP: rs6265
rs6265
BDNF ; BDNF-AS
0.100 GeneticVariation BEFREE To characterize the neurocognitive and brain morphometric phenotypic correlates of the BDNF Val66Met polymorphism and to test the specificity of the BDNF(Met) variant on cognitive dysfunction in schizophrenia. 16818862

2006
dbSNP: rs759834365
rs759834365
BDNF ; BDNF-AS
0.100 GeneticVariation BEFREE To characterize the neurocognitive and brain morphometric phenotypic correlates of the BDNF Val66Met polymorphism and to test the specificity of the BDNF(Met) variant on cognitive dysfunction in schizophrenia. 16818862

2006
dbSNP: rs28936379
rs28936379
PSEN2
0.010 GeneticVariation BEFREE Cognitive deficits in familial Alzheimer's disease associated with M239V mutation of presenilin 2. 16902278

2006
dbSNP: rs1801282
rs1801282
PPARG
0.060 GeneticVariation BEFREE PPAR-gamma Pro12Ala genotype and risk of cognitive decline in elders. 17052804

2008
dbSNP: rs1805192
rs1805192
PPARG
0.060 GeneticVariation BEFREE PPAR-gamma Pro12Ala genotype and risk of cognitive decline in elders. 17052804

2008