Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121917809
rs121917809
PSEN1
0.800 GeneticVariation UNIPROT Analysis of 138 pathogenic mutations in presenilin-1 on the in vitro production of Aβ42 and Aβ40 peptides by γ-secretase. 27930341

2017
dbSNP: rs121917809
rs121917809
PSEN1
0.800 GeneticVariation UNIPROT Mutations of presenilin genes in dilated cardiomyopathy and heart failure. 17186461

2006
dbSNP: rs121917809
rs121917809
PSEN1
G 0.800 CausalMutation CLINVAR

dbSNP: rs63749836
rs63749836
PSEN1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs63751223
rs63751223
PSEN1
C 0.700 GeneticVariation CLINVAR