rs199472730, KCNQ1

N. diseases: 5
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Syncope
CUI: C0039070
Disease: Syncope
0.020 GeneticVariation BEFREE More than half of the patients with V254M or S277L suffered sudden cardiac death or syncope. 29439887 2018
Syncope
CUI: C0039070
Disease: Syncope
0.020 GeneticVariation BEFREE We identified a KCNQ1 missense mutation, KCNQ1 S277L, in a patient presenting with recurrent syncope triggered by emotional stress (QTc=528ms). 21241800 2011