PSEN1, presenilin 1, 5663

N. diseases: 369; N. variants: 155
Disease: Cardiomyopathy, Dilated, 1u ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121917809
rs121917809
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C3160720
Disease:
Cardiomyopathy, Dilated, 1u 		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
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C3160720
Disease:
Cardiomyopathy, Dilated, 1u 		0.800 GeneticVariation UNIPROT Mutations of presenilin genes in dilated cardiomyopathy and heart failure. 17186461 2006
dbSNP: rs121917809
rs121917809
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C3160720
Disease:
Cardiomyopathy, Dilated, 1u 		G 0.800 CausalMutation CLINVAR
dbSNP: rs63749836
rs63749836
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C3160720
Disease:
Cardiomyopathy, Dilated, 1u 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs63751223
rs63751223
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C3160720
Disease:
Cardiomyopathy, Dilated, 1u 		C 0.700 GeneticVariation CLINVAR