DisGeNET - a database of gene-disease associations

Romano-Ward Syndrome, C0035828

Variant: rs397508112 ×

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:

rs397508112

KCNQ1

0.700

GeneticVariation

CLINVAR

Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.

19716085

2009

dbSNP:

rs397508112

KCNQ1

0.700

GeneticVariation

CLINVAR

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

15840476

2005

dbSNP:

rs397508112

KCNQ1

0.700

GeneticVariation

CLINVAR

Spectrum and frequency of cardiac channel defects in swimming-triggered arrhythmia syndromes.

15466642

2004