Disease: Congenital long QT syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs151344631
rs151344631
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C1141890
Disease:
Congenital long QT syndrome 		A 0.700 CausalMutation CLINVAR Microscopic mechanisms for long QT syndrome type 1 revealed by single-channel analysis of I(Ks) with S3 domain mutations in KCNQ1. 25444851 2015
dbSNP: rs151344631
rs151344631
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C1141890
Disease:
Congenital long QT syndrome 		A 0.700 CausalMutation CLINVAR LQTS in Northern BC: homozygosity for KCNQ1 V205M presents with a more severe cardiac phenotype but with minimal impact on auditory function. 23844633 2014
dbSNP: rs151344631
rs151344631
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C1141890
Disease:
Congenital long QT syndrome 		A 0.700 CausalMutation CLINVAR Mechanistic basis for LQT1 caused by S3 mutations in the KCNQ1 subunit of IKs. 20421371 2010
dbSNP: rs151344631
rs151344631
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C1141890
Disease:
Congenital long QT syndrome 		A 0.700 CausalMutation CLINVAR A KCNQ1 V205M missense mutation causes a high rate of long QT syndrome in a First Nations community of northern British Columbia: a community-based approach to understanding the impact. 18580685 2008