Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63751399
rs63751399
PSEN1
C 0.810 CausalMutation CLINVAR

dbSNP: rs63750092
rs63750092
MAPT
T 0.800 CausalMutation CLINVAR

dbSNP: rs63750424
rs63750424
MAPT
T 0.800 CausalMutation CLINVAR

dbSNP: rs63751287
rs63751287
PSEN1
G 0.710 CausalMutation CLINVAR A novel presenilin mutation (M233V) causing very early onset Alzheimer's disease with Lewy bodies. 11684347

2001
dbSNP: rs63751287
rs63751287
PSEN1
G 0.710 CausalMutation CLINVAR PSEN1 p.Met233Val in a Complex Neurodegenerative Movement and Neuropsychiatric Disorder. 29316780

2018
dbSNP: rs63751287
rs63751287
PSEN1
G 0.710 CausalMutation CLINVAR Effect of Presenilin Mutations on APP Cleavage; Insights into the Pathogenesis of FAD. 27014058

2016
dbSNP: rs1566650594
rs1566650594
PSEN1
T 0.700 CausalMutation CLINVAR Familial Alzheimer's disease mutations in presenilins: effects on endoplasmic reticulum calcium homeostasis and correlation with clinical phenotypes. 20634584

2010
dbSNP: rs1566650594
rs1566650594
PSEN1
T 0.700 CausalMutation CLINVAR APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: A genetic screening study of familial and sporadic cases. 28350801

2017
dbSNP: rs1566650594
rs1566650594
PSEN1
T 0.700 CausalMutation CLINVAR De novo deleterious genetic variations target a biological network centered on Aβ peptide in early-onset Alzheimer disease. 26194182

2015
dbSNP: rs1567885658
rs1567885658
GRN
CT 0.700 CausalMutation CLINVAR

dbSNP: rs1567886206
rs1567886206
GRN
TA 0.700 CausalMutation CLINVAR

dbSNP: rs1567886445
rs1567886445
GRN
TTGTGAAGACAGGGTGCACTGCTGTC 0.700 CausalMutation CLINVAR

dbSNP: rs1567886478
rs1567886478
GRN
C 0.700 CausalMutation CLINVAR

dbSNP: rs1567887015
rs1567887015
GRN
TA 0.700 CausalMutation CLINVAR

dbSNP: rs1567888461
rs1567888461
GRN
A 0.700 CausalMutation CLINVAR

dbSNP: rs1568327531
rs1568327531
MAPT
A 0.700 CausalMutation CLINVAR

dbSNP: rs193026789
rs193026789
GRN
A 0.700 CausalMutation CLINVAR

dbSNP: rs63749801
rs63749801
GRN
T 0.700 CausalMutation CLINVAR

dbSNP: rs63749817
rs63749817
GRN
A 0.700 CausalMutation CLINVAR

dbSNP: rs63749824
rs63749824
PSEN1
T 0.700 CausalMutation CLINVAR

dbSNP: rs63750053
rs63750053
PSEN1
T 0.700 CausalMutation CLINVAR Novel PSEN1 G209A mutation in early-onset Alzheimer dementia supported by structural prediction. 27206484

2016
dbSNP: rs63750053
rs63750053
PSEN1
T 0.700 CausalMutation CLINVAR Analysis of 138 pathogenic mutations in presenilin-1 on the in vitro production of Aβ42 and Aβ40 peptides by γ-secretase. 27930341

2017
dbSNP: rs63750053
rs63750053
PSEN1
T 0.700 CausalMutation CLINVAR A novel missense mutation (G209R) in exon 8 of the presenilin 1 gene in a Japanese family with presenile familial Alzheimer's disease. Mutation in brief no. 254. Online. 10447269

1999
dbSNP: rs63750053
rs63750053
PSEN1
T 0.700 CausalMutation CLINVAR Dysregulation of Nutrient Sensing and CLEARance in Presenilin Deficiency. 26923592

2016
dbSNP: rs63750053
rs63750053
PSEN1
T 0.700 CausalMutation CLINVAR The impact of different presenilin 1 andpresenilin 2 mutations on amyloid deposition, neurofibrillary changes and neuronal loss in the familial Alzheimer's disease brain: evidence for other phenotype-modifying factors. 10468510

1999