rs12720449, KCNQ1

N. diseases: 2
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Long QT Syndrome 1
CUI: C4551647
Disease: Long QT Syndrome 1
0.700 GeneticVariation UNIPROT Executive summary: HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes. 23994779 2013
Congenital long QT syndrome
CUI: C1141890
Disease: Congenital long QT syndrome
0.010 GeneticVariation BEFREE Given the inconsistencies between the genotype (LQT1) and clinical phenotype (LQT2) in our two LQTS families, together with the finding that the P448R appears to be a common, ethnic-specific polymorphism, mutational analysis was extended to the other LQTS-causing genes resulting in the identification of distinct HERG missense mutations in each of these two families. 15242738 2004