DisGeNET - a database of gene-disease associations

Long QT Syndrome, C0023976

Variant: rs794728469 ×

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:

rs794728469

KCNH2

0.700

CausalMutation

CLINVAR

Utility of Post-Mortem Genetic Testing in Cases of Sudden Arrhythmic Death Syndrome.

28449774

2017

dbSNP:

rs794728469

KCNH2

0.700

CausalMutation

CLINVAR

Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory.

23631430

2013

dbSNP:

rs794728469

KCNH2

0.700

CausalMutation

CLINVAR