Gene: PSEN1 ×
Source: BEFREE ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs17125721
rs17125721
PSEN1
0.020 GeneticVariation BEFREE Additionally, we found that in the presence of at least one APOE-ε4 allele, p.E318G is associated with more Aβ plaques and faster cognitive decline. 23990795

2013
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: rs63751287
rs63751287
PSEN1
0.010 GeneticVariation BEFREE The second case had a PSEN1 M233V mutation with an earlier age of onset of 25 with cognitive decline, parkinsonism, and epilepsy. 30814350

2019
dbSNP: rs63750522
rs63750522
PSEN1
0.010 GeneticVariation BEFREE Here, we report a 37-year-old male Korean patient carrying a PSEN1 p.Gly417Ala mutation with exceptionally early and severe presentations, including a wide range of atypical symptoms of rapid cognitive decline with a stooped posture, rigidity, and bradykinesia. 30180983

2018
dbSNP: rs63749806
rs63749806
PSEN1
0.010 GeneticVariation BEFREE The PSEN1 F177S mutation leads to typical AD starting at age 30 and a homogeneous phenotype with rapid cognitive decline and prominent neurological symptoms. 23850332

2014
dbSNP: rs63750082
rs63750082
PSEN1
0.010 GeneticVariation BEFREE Neuropsychologic evaluation revealed global cognitive deficits; he was found to be a carrier of a PS-1 point mutation at position G206A. 18797263

2008
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