PSEN1, presenilin 1, 5663

N. diseases: 369; N. variants: 155
Disease: Abnormality of the outer ear ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63750687
rs63750687
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C1846460
Disease:
Abnormality of the outer ear 		T 0.700 GeneticVariation CLINVAR A novel p.Leu(381)Phe mutation in presenilin 1 is associated with very early onset and unusually fast progressing dementia as well as lysosomal inclusions typically seen in Kufs disease. 24121961 2014