Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs120074185
rs120074185
KCNQ1
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: rs120074185
rs120074185
KCNQ1
T 0.710 CausalMutation CLINVAR