Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199473460
rs199473460
C 0.710 CausalMutation CLINVAR Phylogenetic and physicochemical analyses enhance the classification of rare nonsynonymous single nucleotide variants in type 1 and 2 long-QT syndrome. 22949429

2012

dbSNP: rs199473460
rs199473460
C 0.710 CausalMutation CLINVAR Elevated serum gastrin levels in Jervell and Lange-Nielsen syndrome: a marker of severe KCNQ1 dysfunction? 21118729

2011

dbSNP: rs199473460
rs199473460
C 0.710 CausalMutation CLINVAR Use of mutant-specific ion channel characteristics for risk stratification of long QT syndrome patients. 21451124

2011

dbSNP: rs199473460
rs199473460
0.710 GeneticVariation BEFREE Genetic testing in this LQTS population suggests a common KCNQ1 Leu266Pro founder effect, with the descendants clustering in our geographical region even though no common relative has been identified. 19817925

2010

dbSNP: rs199473460
rs199473460
C 0.710 CausalMutation CLINVAR Clinical aspects of type-1 long-QT syndrome by location, coding type, and biophysical function of mutations involving the KCNQ1 gene. 17470695

2007

dbSNP: rs199473460
rs199473460
C 0.710 CausalMutation CLINVAR Long QT and Brugada syndrome gene mutations in New Zealand. 17905336

2007

dbSNP: rs199473460
rs199473460
C 0.710 CausalMutation CLINVAR Activity-dependent development of spinal cord motor neurons. 1467812

1993