DisGeNET - a database of gene-disease associations

rs63750444, PSEN1

N. diseases: 4

Disease: Alzheimer's Disease ×

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

Disease

N. SNPs_d

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF_EXOME

AF_GENOME

Score _vda

EI _vda

N. PMIDs

First Ref.

Last Ref.

Alzheimer's Disease

CUI:	C0002395
Disease:	Alzheimer's Disease

1843

0.882

0.080

14

73192745

missense variant

G/A

snv

0.010

1.000

2019

2019