RS138907450 DSP
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Associated Conditions
Lethal acantholytic epidermolysis bullosa
Woolly hair-skin fragility syndrome
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiovascular phenotype
Cardiomyopathy
Long QT syndrome
Lethal acantholytic epidermolysis bullosa
Woolly hair-skin fragility syndrome
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiovascular phenotype
Cardiomyopathy
Long QT syndrome
Population Frequencies
gnomAD ALL
100%
1kG AFR
100%
1kG ALL
100%
1kG AMR
99.9%
1kG EAS
100%
1kG EUR
0.1%
1kG SAS
100%
Other Variants in DSP