RS113967308 DSP

Health Risk Chr 6:7574242 snv missense variant
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Associated Conditions
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiomyopathy
Cardiovascular phenotype
Lethal acantholytic epidermolysis bullosa
Keratosis palmoplantaris striata 2
dilated
with wooly hair
keratoderma
and tooth agenesis
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiomyopathy
Cardiovascular phenotype
Lethal acantholytic epidermolysis bullosa
Population Frequencies
gnomAD ALL
100%
1kG AFR
0.1%
1kG ALL
0%
1kG AMR
100%
1kG EAS
100%
1kG EUR
100%
1kG SAS
100%
Other Variants in DSP
rs121912991 rs397514039 rs121912992 rs121912993 rs121912994 rs28931610 rs121912995 rs121912996 rs397514040 rs121912997
Ask Dr. Hemsworth about this variant