Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894630
Entrez Id: 6341
Gene Symbol: SCO1
CUI: C0007194
Hypertrophic Cardiomyopathy
0.010 GeneticVariation BEFREE The patient lacked the severe hepatopathy (p.P174L) or hypertrophic cardiomyopathy (p.G132S) observed in previously reported SCO1 cases, so we investigated whether allele-specific defects in SCO1 function might underlie the genotype-phenotype relationships. 23878101 2013