DisGeNET - a database of gene-disease associations

Long QT Syndrome, C0023976

Variant: rs199472942 ×

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:

rs199472942

rs199472942

KCNH2

0.710

GeneticVariation

BEFREE

Compound heterozygosity for mutations Asp611-->Tyr in KCNQ1 and Asp609-->Gly in KCNH2 associated with severe long QT syndrome.

2005

dbSNP:

rs199472942

rs199472942

KCNH2

C

0.710

GeneticVariation

CLINVAR