DisGeNET - a database of gene-disease associations

Alzheimer Disease, Early Onset, C0750901

Variant: rs63750110 ×

Source: ALL

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs63750110

rs63750110

PSEN2

0.010

GeneticVariation

BEFREE

A novel presenilin 2 gene mutation (D439A) in a patient with early-onset Alzheimer's disease.

2001