PSEN2, presenilin 2, 5664

N. diseases: 146; N. variants: 32
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63750197
rs63750197
Entrez Id: 5664
Gene Symbol: PSEN2
PSEN2
CUI: C3150958
Disease:
Cardiomyopathy, Dilated, 1V
0.800 GeneticVariation UNIPROT Mutations of presenilin genes in dilated cardiomyopathy and heart failure. 17186461 2006
dbSNP: rs63750197
rs63750197
Entrez Id: 5664
Gene Symbol: PSEN2
PSEN2
CUI: C3150958
Disease:
Cardiomyopathy, Dilated, 1V
T 0.800 CausalMutation CLINVAR