DisGeNET - a database of gene-disease associations

Torsades de Pointes, C0040479

Variant: rs1805127 ×

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:

rs1805127

rs1805127

KCNE1

0.010

GeneticVariation

BEFREE

Abnormal repolarization dynamics in a patient with KCNE1(G38S) who presented with torsades de pointes.

2016