Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs193922623
rs193922623
RYR2
A 0.700 GeneticVariation CLINVAR

dbSNP: rs199473119
rs199473119
SCN5A
A 0.700 GeneticVariation CLINVAR

dbSNP: rs587782933
rs587782933
CACNA1C
A 0.700 GeneticVariation CLINVAR

dbSNP: rs121434420
rs121434420
PKP2
0.010 GeneticVariation BEFREE We here investigated the involvement of rare genetic variants in SCA risk at the population level by studying the prevalence of 6 founder genetic variants present in the Dutch population (PLN-p.Arg14del, MYBPC3-p.Trp792fsX17, MYBPC3-p.Arg943X, MYBPC3-p.Pro955fsX95, PKP2-p.Arg79X, and the Chr7q36 idiopathic ventricular fibrillation risk haplotype) in a cohort of 1440 unselected Dutch SCA victims included in the Amsterdam Resuscitation Study (ARREST). 26800703

2016
dbSNP: rs768147116
rs768147116
RYR2
0.010 GeneticVariation BEFREE Ryanodine receptor mutations presenting as idiopathic ventricular fibrillation: a report on two novel familial compound mutations, c.6224T>C and c.13781A>G, with the clinical presentation of idiopathic ventricular fibrillation. 24950728

2014