rs199472910, KCNH2

N. diseases: 5
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
0.010 GeneticVariation BEFREE Heterozygous p.His492Tyr variant was identified in 10 LQTS families. 27816319 2017