Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs111033560
rs111033560
0.710 GeneticVariation BEFREE Strikingly, both individuals homozygous for L39stop developed dilated cardiomyopathy and heart failure, requiring cardiac transplantation at ages 16 and 27. 12639993

2003

dbSNP: rs111033560
rs111033560
G 0.710 CausalMutation CLINVAR