rs199472800, KCNQ1

N. diseases: 2
Disease: Long QT Syndrome ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Long QT Syndrome
CUI: C0023976
Disease: Long QT Syndrome
0.700 CausalMutation CLINVAR LQT1 mutations in KCNQ1 C-terminus assembly domain suppress IKs using different mechanisms. 25344363 2014
Long QT Syndrome
CUI: C0023976
Disease: Long QT Syndrome
0.700 CausalMutation CLINVAR Long QT mutations at the interface between KCNQ1 helix C and KCNE1 disrupt I(KS) regulation by PKA and PIP₂. 25037568 2014
Long QT Syndrome
CUI: C0023976
Disease: Long QT Syndrome
0.700 CausalMutation CLINVAR Founder mutations characterise the mutation panorama in 200 Swedish index cases referred for Long QT syndrome genetic testing. 23098067 2012
Long QT Syndrome
CUI: C0023976
Disease: Long QT Syndrome
0.700 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
Long QT Syndrome
CUI: C0023976
Disease: Long QT Syndrome
0.700 CausalMutation CLINVAR Genotype- and Sex-Specific QT-RR Relationship in the Type-1 Long-QT Syndrome. 23130128 2012
Long QT Syndrome
CUI: C0023976
Disease: Long QT Syndrome
0.700 CausalMutation CLINVAR PKA and PKC partially rescue long QT type 1 phenotype by restoring channel-PIP2 interactions. 19934648 2010
Long QT Syndrome
CUI: C0023976
Disease: Long QT Syndrome
0.700 CausalMutation CLINVAR Long QT syndrome in neonates: conduction disorders associated with HERG mutations and sinus bradycardia with KCNQ1 mutations. 14998624 2004
Long QT Syndrome
CUI: C0023976
Disease: Long QT Syndrome
0.700 CausalMutation CLINVAR KVLQT1 C-terminal missense mutation causes a forme fruste long-QT syndrome. 9386136 1997