DisGeNET - a database of gene-disease associations

Long QT Syndrome, C0023976

Variant: rs794728504 ×

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:

rs794728504

KCNH2

0.700

CausalMutation

CLINVAR

UniProt: a hub for protein information.

25348405

2015

dbSNP:

rs794728504

KCNH2

0.700

CausalMutation

CLINVAR

Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants.

19841300

2009

dbSNP:

rs794728504

KCNH2

0.700

CausalMutation

CLINVAR

Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.

15840476

2005

dbSNP:

rs794728504

KCNH2

0.700

CausalMutation

CLINVAR

Catecholamine-provoked microvoltage T wave alternans in genotyped long QT syndrome.

12877697

2003