Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs116840799
rs116840799
Entrez Id: 859;51066
Gene Symbol: CAV3;SSUH2
CAV3;SSUH2
CUI: C0007194
Disease:
Hypertrophic Cardiomyopathy
0.010 GeneticVariation BEFREE A Thr63Ser mutation was identified in a sibling case of HCM. 14672715 2004