rs1060499604, MYBPC3

N. diseases: 4
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Familial Hypertrophic Cardiomyopathy Type 4
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
0.700 GeneticVariation CLINVAR
LEFT VENTRICULAR NONCOMPACTION 10
CUI: C3715165
Disease: LEFT VENTRICULAR NONCOMPACTION 10
0.700 GeneticVariation CLINVAR
Hypertrophic Cardiomyopathy
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
0.700 GeneticVariation CLINVAR
Cardiomyopathy, Hypertrophic, Familial
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
0.700 GeneticVariation CLINVAR Evidence from human myectomy samples that MYBPC3 mutations cause hypertrophic cardiomyopathy through haploinsufficiency. 19574547 2009