Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199472795
rs199472795
T 0.710 CausalMutation CLINVAR PIP₂-dependent coupling is prominent in Kv7.1 due to weakened interactions between S4-S5 and S6. 25559286

2015

dbSNP: rs199472795
rs199472795
T 0.710 CausalMutation CLINVAR A long QT mutation substitutes cholesterol for phosphatidylinositol-4,5-bisphosphate in KCNQ1 channel regulation. 24681627

2014

dbSNP: rs199472795
rs199472795
T 0.710 CausalMutation CLINVAR Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory. 23631430

2013

dbSNP: rs199472795
rs199472795
T 0.710 CausalMutation CLINVAR Hexachlorophene is a potent KCNQ1/KCNE1 potassium channel activator which rescues LQTs mutants. 23251633

2012

dbSNP: rs199472795
rs199472795
T 0.710 CausalMutation CLINVAR Founder mutations characterise the mutation panorama in 200 Swedish index cases referred for Long QT syndrome genetic testing. 23098067

2012

dbSNP: rs199472795
rs199472795
T 0.710 CausalMutation CLINVAR KCNE1 enhances phosphatidylinositol 4,5-bisphosphate (PIP2) sensitivity of IKs to modulate channel activity. 21576493

2011

dbSNP: rs199472795
rs199472795
T 0.710 CausalMutation CLINVAR KCNQ1 assembly and function is blocked by long-QT syndrome mutations that disrupt interaction with calmodulin. 16556866

2006

dbSNP: rs199472795
rs199472795
0.710 GeneticVariation BEFREE In the present study, we show that PIP2 affinity is reduced in three KCNQ1 mutant channels (R243H, R539W, and R555C) associated with the long QT syndrome. 15746441

2005

dbSNP: rs199472795
rs199472795
T 0.710 CausalMutation CLINVAR In the present study, we show that PIP2 affinity is reduced in three KCNQ1 mutant channels (R243H, R539W, and R555C) associated with the long QT syndrome. 15746441

2005

dbSNP: rs199472795
rs199472795
T 0.710 CausalMutation CLINVAR Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. 15840476

2005

dbSNP: rs199472795
rs199472795
T 0.710 CausalMutation CLINVAR Location of mutation in the KCNQ1 and phenotypic presentation of long QT syndrome. 14678125

2003

dbSNP: rs199472795
rs199472795
T 0.710 CausalMutation CLINVAR Characterization and subcellular localization of KCNQ1 with a heterozygous mutation in the C terminus. 11162126

2001

dbSNP: rs199472795
rs199472795
T 0.710 CausalMutation CLINVAR Novel mutations in KvLQT1 that affect Iks activation through interactions with Isk. 10728423

2000