DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Arrhythmogenic Right Ventricular Dysplasia ×

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

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF _EXOME

AF _GENOME

Disease

Score _vda

EI _vda

N_.PMIDs

FirstRef.

LastRef.

dbSNP:

rs386134243

rs386134243

LMNA

0.708

0.360

1

156135967

missense variant

C/A;T

snv

4.0E-06

CUI:	C0349788
Disease:	Arrhythmogenic Right Ventricular Dysplasia

Arrhythmogenic Right Ventricular Dysplasia

0.700

dbSNP:

rs397517906

rs397517906

LMNA

0.925

0.080

1

156134890

missense variant

C/T

snv

8.0E-06

CUI:	C0349788
Disease:	Arrhythmogenic Right Ventricular Dysplasia

Arrhythmogenic Right Ventricular Dysplasia

0.700