Disease: Congenital long QT syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199472696
rs199472696
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C1141890
Disease:
Congenital long QT syndrome 		0.010 GeneticVariation BEFREE We identified a LQTS family harboring three compound mutations in different genes (KCNQ1-R174C, hERG-E1039X and SCN5A-E428K). 29449639 2018