PSEN1, presenilin 1, 5663

N. diseases: 369; N. variants: 155
Disease: Alzheimer Disease, Early Onset ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63750730
rs63750730
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0750901
Disease:
Alzheimer Disease, Early Onset 		0.020 GeneticVariation BEFREE Novel presenilin 1 mutation (p.I83T) in Tunisian family with early-onset Alzheimer's disease. 26145164 2015
dbSNP: rs63750730
rs63750730
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0750901
Disease:
Alzheimer Disease, Early Onset 		0.020 GeneticVariation BEFREE A novel mutation (Thr116Ile) in the presenilin 1 gene in a patient with early-onset Alzheimer's disease. 15272895 2004