DisGeNET - a database of gene-disease associations

rs1051339, LIPA

N. diseases: 3

Disease: Coronary heart 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.

Coronary heart disease

CUI:	C0010068
Disease:	Coronary heart disease

1178

0.882

0.040

10

89247582

missense variant

C/T

snv

9.5E-02

0.13

0.010

1.000

2019

2019