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: rs199473447
rs199473447
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C1141890
Disease:
Congenital long QT syndrome 		0.010 GeneticVariation BEFREE In another SIDS case, a heterozygous missense mutation (H105L) was identified in the N-terminal region of the KCNQ1 (LQTS 1) gene. 16012827 2006