Disease: cardiac symptom ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs120074196
rs120074196
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C0741933
Disease:
cardiac symptom 		0.010 GeneticVariation BEFREE The R243H mutation was found in a compound heterozygous JLN patient who presents with deafness and cardiac symptoms. 10728423 2000