rs72546668, SSUH2;CAV3

N. diseases: 8
Disease: Long QT Syndrome ×
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
0.020 GeneticVariation BEFREE Methods To examine the effects of human LQTS-associated cav-3 mutations on HCN4-channel function, HEK293-cells were cotransfected with HCN4 and wild-type (WT) cav-3 or a LQTS-associated cav-3 mutant (T78M, A85T, S141R, or F97C). 28648120 2017
Long QT Syndrome
CUI: C0023976
Disease: Long QT Syndrome
0.020 GeneticVariation BEFREE Mutations in CAV3 are rare in LQTS.Furthermore, caveolin-3:p.T78M did not exhibit a LQTS phenotype. 24021552 2013