Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1432061016
rs1432061016
DES
0.010 GeneticVariation BEFREE We report the clinical, genetic and cardiac magnetic resonance imaging (MRI) findings in 11 German patients with heterozygous E245D, D339Y, R350P and L377P desmin mutations and without cardiac symptoms. 18504128

2008
dbSNP: rs120074196
rs120074196
KCNQ1
0.010 GeneticVariation BEFREE The R243H mutation was found in a compound heterozygous JLN patient who presents with deafness and cardiac symptoms. 10728423

2000