rs112451138, PSEN1

N. diseases: 2
Disease: Dementia ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Dementia
CUI: C0497327
Disease: Dementia
0.010 GeneticVariation BEFREE Here we report three novel PSEN1 mutations: Ile238_Lys239insIle, Ala246Pro and Ala164Val from patients who manifested in their twenties, forties and seventies, respectively, with variant clinical presentations of dementia. 26350633 2015