DisGeNET - a database of gene-disease associations

Long QT Syndrome, C0023976

Variant: rs1800172 ×

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:

rs1800172

rs1800172

KCNQ1 ; KCNQ1-AS1

0.010

GeneticVariation

BEFREE

In elderly females, G643S might be an independent risk factor for secondary LQTS by causing a greater TDR.

2006