DisGeNET - a database of gene-disease associations

DSP, desmoplakin, 1832

N. diseases: 191; N. variants: 152

Disease: Arrhythmogenic Right Ventricular Dysplasia ×

Variant: rs1238227166 ×

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

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF_EXOME

AF_GENOME

Disease

Disease Class

Score _vda

EI _vda

N. PMIDs

First Ref.

Last Ref.

dbSNP:

rs1238227166

1.000

0.080

7565500

stop gained

C/G;T

snv

4.0E-06

CUI:	C0349788
Disease:	Arrhythmogenic Right Ventricular Dysplasia

Arrhythmogenic Right Ventricular Dysplasia

Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases

0.700