DisGeNET - a database of gene-disease associations

Source: BEFREE

Disease: Alzheimer's Disease ×

Variant: rs63750815 ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs63750815

rs63750815

PSEN1

CUI:	C0002395
Disease:	Alzheimer's Disease

Alzheimer's Disease

0.010

GeneticVariation

BEFREE

A novel mutation (V89L) in the presenilin 1 (PSEN1) gene is described in a family with pathologically confirmed Alzheimer's disease.

2002