DisGeNET - a database of gene-disease associations

Cardiomyopathy, Dilated, C0007193

Variant: rs140743001 ×

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

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs140743001

TTN ; TTN-AS1

0.700

GeneticVariation

CLINVAR

The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing.

24503780

2014

dbSNP:

rs140743001

TTN ; TTN-AS1

0.700

GeneticVariation

CLINVAR

Truncations of titin causing dilated cardiomyopathy.

22335739

2012