Source: CLINVAR

Variant Gene Disease Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912997
rs121912997
DSP
Cardiomyopathy dilated with Woolly hair and keratoderma
0.700 CausalMutation CLINVAR Loss of desmoplakin isoform I causes early onset cardiomyopathy and heart failure in a Naxos-like syndrome. 16467215

2006

dbSNP: rs121912997
rs121912997
DSP
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.700 GeneticVariation CLINVAR

dbSNP: rs121912997
rs121912997
DSP
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome
0.700 GeneticVariation CLINVAR