Disease: Deafness, Autosomal Dominant 28 ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs398122997
rs398122997 		1.000 0.120 8 101644221 frameshift variant -/C delins
CUI: C1837640
Disease: Deafness, Autosomal Dominant 28
Deafness, Autosomal Dominant 28 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs398123006
rs398123006 		1.000 0.120 8 101631636 splice acceptor variant G/A snv
CUI: C1837640
Disease: Deafness, Autosomal Dominant 28
Deafness, Autosomal Dominant 28 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0