rs120074185, KCNQ1

N. diseases: 3
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
0.710 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
Long QT Syndrome
CUI: C0023976
Disease: Long QT Syndrome
0.710 CausalMutation CLINVAR