DisGeNET - a database of gene-disease associations

Cardiomyopathy, Familial Idiopathic, C1449563

Variant: rs177415 ×

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:

rs177415

rs177415

PSEN1

0.010

GeneticVariation

BEFREE

Compared with controls, the frequency of AA and AC genotypes and the A allele at SNP rs177415 were significantly increased in DCM pa</span>tients.

2011