DisGeNET - a database of gene-disease associations

rs63750066, APP

N. diseases: 9

Disease: Presenile dementia ×

Source: ALL

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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.

Presenile dementia

CUI:	C0011265
Disease:	Presenile dementia

159

0.763

0.160

21

25891796

missense variant

C/T

snv

9.5E-05

6.3E-05

0.020

1.000

2004

2017