DisGeNET - a database of gene-disease associations

Long QT Syndrome, C0023976

Variant: rs397508118 ×

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:

rs397508118

KCNQ1

0.700

CausalMutation

CLINVAR

Marked, transient, emotion-triggered QT accentuation in an adolescent female with type 1 long QT syndrome.

24666684

2015

dbSNP:

rs397508118

KCNQ1

0.700

CausalMutation

CLINVAR

Prevalence and potential genetic determinants of sensorineural deafness in KCNQ1 homozygosity and compound heterozygosity.

23392653

2013

dbSNP:

rs397508118

KCNQ1

0.700

CausalMutation

CLINVAR

Prevalence, mutation spectrum, and cardiac phenotype of the Jervell and Lange-Nielsen syndrome in Sweden.

22539601

2012

dbSNP:

rs397508118

KCNQ1

0.700

CausalMutation

CLINVAR

A spectrum of functional effects for disease causing mutations in the Jervell and Lange-Nielsen syndrome.

11530100

2001

dbSNP:

rs397508118

KCNQ1

0.700

CausalMutation

CLINVAR

Swimming, a gene-specific arrhythmogenic trigger for inherited long QT syndrome.

10560595

1999