DisGeNET - a database of gene-disease associations

Romano-Ward Syndrome, C0035828

Variant: rs397508111 ×

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:

rs397508111

KCNQ1

0.700

CausalMutation

CLINVAR

End-recovery QTc: a useful metric for assessing genetic variants of unknown significance in long-QT syndrome.

22429796

2012

dbSNP:

rs397508111

KCNQ1

0.700

CausalMutation

CLINVAR

Recurrent and Founder Mutations in the Netherlands: the Long-QT Syndrome.

21350584

2011

dbSNP:

rs397508111

KCNQ1

0.700

CausalMutation

CLINVAR

Novel mutations in KvLQT1 that affect Iks activation through interactions with Isk.

10728423

2000

dbSNP:

rs397508111

KCNQ1

0.700

CausalMutation

CLINVAR

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

10560595

1999