RS116774070 DST

Health Risk Chr 6:56532484 snv missense variant
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Associated Conditions
Epidermolysis bullosa simplex 3
localized or generalized intermediate
with BP230 deficiency
Hereditary sensory and autonomic neuropathy type 6
Inborn genetic diseases
Epidermolysis bullosa simplex 3
localized or generalized intermediate
with BP230 deficiency
Hereditary sensory and autonomic neuropathy type 6
Inborn genetic diseases
Population Frequencies
gnomAD ALL
100%
1kG AFR
0.8%
1kG ALL
0.2%
1kG AMR
100%
1kG EAS
100%
1kG EUR
100%
1kG SAS
100%
Other Variants in DST
rs398122819 rs201045495 rs398122943 rs775912185 rs45472691 rs201419873 rs112473525 rs34767818 rs41267671 rs142650835
Ask Dr. Hemsworth about this variant