DisGeNET - a database of gene-disease associations

Cardiomyopathy, Familial Idiopathic, C1449563

Variant: rs143268013 ×

Source: BEFREE ×

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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

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs143268013

rs143268013

CAVIN4

0.010

GeneticVariation

BEFREE

Variants p.N128K and p.S307T segregated with inheritance of DCM</span> in small families (χ(2)=8.5, P=0.003).

2011