rs116840795, CAV3;SSUH2

N. diseases: 2
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
0.700 GeneticVariation CLINVAR CAV3 mutation in a patient with transient hyperCKemia and myalgia. 27772553 2017
Long QT Syndrome
CUI: C0023976
Disease: Long QT Syndrome
0.700 GeneticVariation CLINVAR Myotonia associated with caveolin-3 mutation. 22581547 2012
Long QT Syndrome
CUI: C0023976
Disease: Long QT Syndrome
0.700 GeneticVariation CLINVAR A novel mutation in the caveolin-3 gene causing familial isolated hyperCKaemia. 15099591 2004
Creatine phosphokinase serum increased
CUI: C0241005
Disease: Creatine phosphokinase serum increased
0.700 GeneticVariation UNIPROT