Gene: PSEN1 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057518919
rs1057518919
PSEN1
G 0.700 CausalMutation CLINVAR

dbSNP: rs63750301
rs63750301
PSEN1
T 0.700 GeneticVariation CLINVAR

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