Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs730880092
rs730880092
DSP
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		G 0.700 GeneticVariation CLINVAR Compound heterozygous desmoplakin mutations result in a phenotype with a combination of myocardial, skin, hair, and enamel abnormalities. 19924139

2010